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Rare Diseases in India

Indian Organization for Rare Diseases (IORD) is an umbrella organization, representing interests of all rare disease patients, patient support groups, health policy advocates and health care providers extending support or working in the field of any of the undermentioned rare disease groups.

Whether it’s about advocacy on orphan drugs in India, rare diseases in India or taking up various interconnected issues that affect rare disease patients in the following groups, Indian Organization for Rare Diseases is always expected to be at the forefront.

It is not possible to understand each rare disease as there are an estimated 7,000 – 8,000 rare diseases in the world including about 450 rare diseases in India that have been officially recorded from across tertiary hospitals.

While approved treatments are known to exist for less than 5% cases, newer rare disease cases too get reported, making the situation more complex for all the stakeholders involved.

If you are a rare disease patient affected by any of the following rare diseases falling in the below-mentioned groups, or an NGO/ Patients’ Organisation or a healthcare provider for rare disease patients, please know that together we can make a difference!

Rare Autoimmune Diseases

Rare Autoimmune Disorders are a group of rare diseases that leads to a compromised immune system in the patients.

In autoimmune disorders, the body’s immune system attacks healthy cells by releasing proteins called autoantibodies, while mistaking own cells as foreign cells. They can target different organs of the body. Some of these rare autoimmune disorders are inherited.

The following are some of the Rare Autoimmune Disorders. However, this list of rare autoimmune disorders is not comprehensive. There may be several other rare autoimmune disorders that may be missing from this list. Please alert us at indiaord@gmail.com if we have missed any disease.

CREST syndrome: It is a rare autoimmune disorder that affects on skin. It is also known as Limited Scleroderma or Raynaud’s Phenomenon where skin-tightening is a characteristic symptom in this condition.

POEMS syndrome: This is a rare autoimmune disorder that affects the nerves, which gets damaged progressively. POEMS is an acronym that stands for Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma-proliferative disorder and Skin disease.

Addison’s disease: This is a rare autoimmune disorder that affects adrenal glands. This condition is also known as adrenal insufficiency, as these glands produce an insufficient amount of cortisol and aldosterone hormones.

Autoimmune hepatitis: In this rare autoimmune disorder, the body’s immune system attacks the liver. If the autoimmune hepatitis is left untreated, it may lead to liver failure.

Autoimmune Inner Ear Disease (AIED): This rare autoimmune disorder leads to progressive hearing loss as the body’s immune system attacks the inner ear.

Autoimmune Gastrointestinal Dysmotility: The cause for Autoimmune gastrointestinal dysmotility (AGID) is yet unknown. It is known to affect gastrointestinal organs.

Autoimmune Hemolytic Anemia: In Autoimmune Hemolytic Anemia (AIHA), the body’s immune system attacks the red blood cells. This leads to reduction in the number of red blood cells, leading to this condition.

Mixed connective tissue disease (MCTD): This rare autoimmune disorder often targets young women. This condition shows mixed features of connective tissue disorders such as scleroderma, polymyositis and systemic lupus erythematosus.

Paroxysmal nocturnal hemoglobinuria (PNH): In this rare autoimmune disorder, the red blood cells are known to lack a particular protein, which destroys them prematurely. This process is called hemolysis. The condition shows symptoms like fatigue, weakness and non-stop bleeding.

Autoimmune Lymphoproliferative Syndrome (ALPS): In this rare autoimmune disorder, the body produces a large number of lymphocytes known as lymphoproliferation. In this condition, the body cannot control the production of immune cells, i.e lymphocytes.

Evans Syndrome: This is a rare autoimmune disorder where the body’s immune system attacks and destroys red blood cells, platelets and neutrophils. This leads to low levels of these blood cells.

Cold Antibody Hemolytic Anemia (CAHA): CAHA is a rare autoimmune disorder that attacks red blood cells, which leads to their premature deaths well before they reach 120 days.

Coombs Negative Hemolytic Anemia: In Coombs Negative Hemolytic Anemia – an autoimmune disorder – there is less concentration of antibody on the red cells that makes it impossible for detection.

Thyroid eye disease: This is a rare autoimmune condition where the immune cells attack the thyroid gland. It leads to enlargement of the thyroid gland and increases metabolism. This disease is also known as Graves‘ Eye Disease.

Kawasaki disease: This rare autoimmune disease leads to inflammation of the blood vessels.

Meniere’s Disease Autoimmune: In Meniere’s disease, it affects one ear and may lead to hearing loss. Not all Meniere’s Disease has autoimmune origin, but it is estimated that one third of all Meniere’s Disease are autoimmune in nature.

Eosinophilic granulomatosis with polyangiitis (EGPA): This is a rare autoimmune disorder where the blood has high levels of white blood cells called eosinophils. It may damage other organs of the body.

Idiopathic Autoimmune Hemolytic Anemia: In Idiopathic Autoimmune Hemolytic Anemia, the cause of the condition remains unknown. Hence, it is called as Idiopathic (unknown cause). In this condition, the red blood cells get destroyed while very less is produced in the body.

Mixed Autoimmune Hemolytic Anemia: In Mixed Autoimmune Hemolytic Anemia, there is a combination of both warm and cold autoantibodies that affect the red blood cells at either high temperature or low temperature.

Addison’s disease: In Addison’s disease, the adrenal glands get damaged due to less production of hormone cortisol and aldosterone. This condition is often linked to autoimmune factor.

Warm Antibody Hemolytic Anemia: This is more common form of autoimmune hemolytic anemia, where the autoantibodies destroy the red blood cells at temperatures greater or equal to the body temperature.

Guillain-Barre syndrome: In this rare autoimmune disorder, the immune system targets the peripheral nerve system.

Myasthenia gravis: This autoimmune disease is known to produce antibodies that disturb the communication between muscles and nerves, resulting in muscle weakness and fatigue.

Retroperitoneal fibrosis: This is a rare autoimmune disorder that the kidney and the bladder. In this condition, people have difficulty passing urine as fibrous mass blocks the ureters that carry urine from kidney to the bladder.

Scleroderma: In this rare autoimmune condition, the skin gets affected due to abnormal thickening.

Glycogen Storage Disorders

Glycogen Storage Disorders are a group of rare diseases where the body cannot process enzymes the correct way. This deficiency leads to several types of Glycogen Storage Disorders (GSDs) based on the enzyme it cannot use properly.

These enzymes are needed to break down the glycogen but in patients diagnosed with GSDs, it gets stuck.

The prevalence of GSDs is estimated to be in the range of 20,000 to 25,000 births. It mostly affects children. The following are the known types of GSDs, with type I being the most common.

The following are types of Glycogen Storage Disorders. Please alert us at indiaord@gmail.com if we have missed any rare disease in this group.

Type O GSD: This condition is one of the uncommon Glycogen Storage Disorders (GSDs) that is characterised by the body’s failure to form glycogen. This condition is also known as Lewis’ Disease.

Type O GSD is of two types: Muscle GSD O and Liver GSD O. In Muscle GSD O, there is no glycogen formation in the muscles, while in Liver GSD 0, there is no glycogen formation in liver.

Type I GSD: This is the most common type of GSDs. Those with Type I GSD do not have enzyme to convert glycogen into glucose in the liver, leading to accumulation of glycogen in liver. This condition is also known as Von Gierke’s Disease.

Type I GSD is again of two types: Type IA and Type IB.

Type IA: Type IA GSD leads to growth retardation, caused due to deficiency of glucose-6-phosphatase (G6Pase). This is an inherited condition and results due to accumulation of glycogen in the liver and kidneys.

Type IB: In GSD IB, there is a glycogen accumulation in the liver and kidneys which makes these organs to malfunction. This condition is caused due to mutations in SLC37A4 genes.

Type II GSD: This type of Glycogen Storage Disorder (GSD) is known as Pompe Disease. It results due to deficiency of acid alpha-glucosidase. In this condition, there is an accumulation of glycogen in muscles, heart, liver, nervous system, blood vessels.

Type III GSD: This type of Glycogen Storage Disorder (GSD) is known as Forbes-Cori disease. It is a genetic disorder caused due to deficiency of an enzyme called the debranching enzyme that breaks down glycogen, which gets accumulated in liver and in muscle tissues.

Type IV GSD: This type of Glycogen Storage Disorder (GSD) is known as Andersen’s Disease. This is caused due to accumulation of glycogen in the body, triggered by mutations in the GBE1 gene. This condition may lead to cirrhosis of the liver.

Type V GSD: This type of Glycogen Storage Disorder (GSD) is known as McArdle’s Disease. Known to be an inherited disorder, the condition makes it difficult for the body to break down glycogen in muscle cells. The problem is caused by mutations in PYGM gene.

Type VI GSD: This type of Glycogen Storage Disorder (GSD) is known as Hers’ Disease. It is an inherited disorder caused due to the body’s failure in breaking down glycogen in liver cells. This condition is caused by mutations in the PYGL gene.

Type VII GSD: This type of Glycogen Storage Disorder (GSD) is known as Tarui’s Disease. It is an inherited disorder caused due to the body’s failure to break down glycogen in muscle cells.

The condition is caused due to mutations in the PFKM gene. There are four different types of GSDVII.

Type VIII GSD: This condition is very rare, but it is possible that cases may remain undiagnosed. This condition is also known as Hepatic Phosphorylase Kinase Deficiency or Phosphorylase Kinase Deficiency of Liver or Glycogenosis Type VIII. In this condition, the size of the liver shrinks.

Type IX GSD: This rare condition affects children where it leads to an enlarged liver. Type GSD IX leads to hampered motor skills and muscle weakness besides damaging liver. This condition is caused due to mutations in PHKA1, PHKA2, PHKB, or PHKG2 genes.

Type X GSD: Glycogen storage disease type X is caused due to mutations in the PGAM2 gene. This condition is also known as Human Muscle Phosphoglycerate Mutase deficiency.

Type XI GSD: This type of Glycogen Storage Disorder (GSD) is known as Fanconi-Bickel syndrome. The other name for this condition is Lactate Dehydrogenase Deficiency Type A. In this condition, growth retardation is common. The condition can be diagnosed with the presence of a mutation in the SLC2A2 gene.

Lysosomal Storage Disorders

Lysosomal Storage Diseases do not have well-defined treatment protocol. There are dozens of conditions that can be grouped under the sub-class Lysosomal Storage Disorders.

These diseases happen because of enzyme deficiencies in the body. In particular, the disease takes root when the lysosomes present in the cell cannot function properly.

The primary function of lysosomes is to break down complex proteins, but when it does not happen, it leads to accumulation of the former. This is how it gets its name “storage disease”.

The following are some of the common Lysosomal Storage Disorders, a separate group of rare diseases. However, this list of Lysosomal Storage Disorders is not comprehensive. There may be several other Lysosomal Storage Disorders that may fit in this list. Please alert us at indiaord@gmail.com if we have missed any disease in this group.

The following are some of the common Lysosomal Storage Disorders.

Glycogenosis: The abnormal storage of glycogen in the body’s tissues. The condition is also known as Glycogen Storage Disease or Dextrinosis. It could be genetic in nature or acquired.

Aspartylglucosaminuria: This condition is known to affect infants. It leads to a progressive decline in mental functioning.

Batten Disease: It is a neurodegenerative disorder.

Cystinosis: It is a genetic disorder, characterised by accumulation of amino acid cysteine in the body.

Fabry Disease: It leads to build-up of fatty substance in the cells and subsequent narrowing down of blood vessels. It is also known as Anderson Fabry Disease and can affect vital organs like the heart, the brain, and kidneys.

Gaucher Disease Types I, II, and III: Gaucher Disease Type I is characterised by the absence of neurological complications, while Gaucher Disease Type II and Gaucher Disease Type III accompany neurological complications.

Glycogen Storage Disease II: In this condition, muscle and nerve cells get damaged in the body. Glycogen Storage Disease II – which happens due to accumulation of glycogen in the cells – is also known as Pompe disease.

GM2-Gangliosidosis Type I: This condition mainly affects infants. Known as Tay Sachs Disease, it is characterised by progressive neurodegenerative disorder.

GM2-Gangliosidosis Type II: It is a type of lysosomal storage disorders caused by gene mutations, courtesy HEXA, HEXB and GM2A. It is also known as Sandhoff disease, which mostly affects infants.

Metachromatic Leukodystrophy: This condition is characterised by developmental delay or mental retardation in children.

Mucolipidosis Types I, II, III and IV: Mucolipidosis Type I come in two different conditions – Sialidosis Type I and Sialidosis Type II, respectively. In both conditions, they affect infants as a result of muscle contractions and skeletal malformations.

While in Mucolipidosis Type II, the condition is known to affect infants, resulting in defective skull growth and mental retardation. This condition is also known as I-cell disease.

In Mucolipidosis Type III, the condition results in stunted growth. This condition is also known as Pseudo-Hurler disease.

The condition in Mucolipidosis Type IV is characterised by reduced muscular coordination and poor muscle growth.

Mucopolysaccharide Storage Diseases: There are several rare conditions that can be grouped under

Mucopolysaccharide Storage Diseases such as Hurler Disease, Hunter, Sanfilippo Types A, B, C, D, Morquio Types A and B, Maroteaux-Lamy and Sly diseases. These conditions are known to adversely affect growth.

Niemann-Pick Disease Types A, B, C1 & C2: In these conditions and sub-types of Niemann-Pick Disease, the patients experience learning disabilities and loss of motor skills.

Schindler Disease Type I and Type II: In this condition, the patient faces reduced motor and mental skills.

Rare Bacterial Diseases

Some bacterial infections can cause rare disorders, which if not detected on time may turn fatal for patients. They could most likely share symptoms with other disorders that may make the diagnosis difficult.

The tricky part is that without diagnosis, one cannot expect proper treatment in such cases. Hence, it is important to understand some of the known rare bacterial infections and how they affect our body.

The following are some of the Rare Bacterial Infections. However, the list of rare bacterial infections is not comprehensive. There may be other rare bacterial infections that may be missing from this list. Please alert us at indiaord@gmail.com if we have missed any disease.

Anthrax: Anthrax infection is caused by bacterium Bacillus anthracis. The infection can affect different organs. Treatment is by administering antibiotics. These are some of the forms of Anthrax infections:

Cutaneous anthrax (affects skin)
Gastrointestinal anthrax (affects abdomen)
Pulmonary anthrax (affects lungs)

Atypical mycobacteriosis, familial: This is a rare immunodeficiency syndrome where patients have susceptibility to mycobacteria. Known as Mendelian susceptibility to mycobacterial diseases (MSMD), it has several sub-types.

Buruli ulcer: Buruli ulcer is caused by a bacterium called Mycobacterium ulcerans. This bacterium belongs to the same family that is responsible for tuberculosis and leprosy. It can cause skin damage.

The World Health Organisation (WHO) sporadically reports Buruli Ulcer cases from around 30 countries that number around 2000 every year.

Cat scratch disease: This is a rare infection of the lymph nodes that results in following a scratch from an infected cat. The infection is caused by Bartonella henselae bacteria. The patient may see red bump on the skin and experience fatigue.

Chancroid: Chancroid is a rare bacterial sexually transmitted disease (STD) caused by Haemophilus ducreyi. This is a curable infection.

Clostridium sordellii infection: This is a fatal rare infection caused by Clostridium sordellii, a pathogenic anaerobic species of bacteria. It often leads to gynaecological complications in women.

Flavimonas oryzihabitans infection: Renamed as Pseudomonas oryzihabitans, Flavimonas oryzihabitans (old name) infection is rare and can lead to blood and skin related complications.

Glanders: Glanders is known to be highly contagious zoonotic disease. Its symptoms appear on the skin in the form of ulcerating lesions of the skin and mucous membranes.

Granuloma Inguinale: This is a rare sexually transmitted disease (STD) caused by the bacteria Klebsiella granulomatis. The symptoms include red lump on or near the genitals.

Human Granulocytic Ehrlichiosis: Human Granulocytic Ehrlichiosis (HGE) is considered rare and is an infectious disease. The disease is caused by bacteria in the “Ehrlichia” family.

Klebsiella infection: Widespread antibiotic misuse, it may result in some Klebsiellae strains of bacteria that are anti-biotic resistant. This bacteria is said to be responsible for 8% of all hospital-acquired infection cases.

Lemierre syndrome: Lemierre syndrome is considered rare and often fatal, if the condition remains untreated. It causes an infection in oropharyngeal region by Fusobacterium necrophorum.

Melioidosis: Melioidosis is an infectious bacterial disease caused by Burkholderia pseudomallei. It can cause symptoms like swelling, fever, abscess, cough, high fever, headache, trouble breathing etc.

Mycetoma: Mycetoma is a rare infection that is caused as white blood cells fail to function. It is caused by actinomycetes or fungi.

Mycobacterium fortuitum: Mycobaterium fortuitum infection can cause skin diseases, eye diseases, joint infection and inflammation of the bone if it remains untreated.

Mycobacterium Gordonae: Infections caused by Mycobacterium Gordonae are considered very rare with very few recorded cases. They can affect both immunocompetent & immunocompromised patients.

Mycobacterium Kansasii: Disseminated Mycobacterium kansasii infection with skin lesions is regarded rare. They can affect immunocompetent patients.

Mycobacterium Malmoense: This bacteria may cause an infection of lymphnodes in the neck and may affect those who are immunocompromised. The Mycobacterium Malmoense bacteria may enter the body through an open injury or surgical incision.

Mycobacterium Marinum: The incidence of Mycobacterium Marinum is very rare and affects skin and limbs. It is known to occur in 0.27 cases per 100,000 adult patients.

Mycobacterium Xenopi: Mycobacterium xenopi is known to cause lung diseases in countries like Canada, the UK and some parts of Europe.

Necrotizing fasciitis: Necrotizing fasciitis is known to be a rare bacterial infection that can become fatal. In this condition, skin becomes red, warm, swollen, or very painful soon after a surgery.

Nontuberculous mycobacterial lung disease: Nontuberculous mycobacterial (NTM) lung disease is a rare disorder caused by Mycobacterium avium complex (MAC). The symptoms include chronic cough, dyspnea, fatigue, fever, weight loss, and chest pain.

Pasteurella Multocida Infection: Pasteurella multocida infection can be dangerous & often caused due to cat or dog bites. It may cause infection of deep tissues and osteomyelitis.

Pinta: It is known to be a rare and infectious tropical disease that affects skin. They often appear as reddened areas on the body.

Pyomyositis: Pyomyositis (PM) is known to be a rare primary bacterial infection that affects skeletal muscle. The infection likely to spread in the body from a muscle injury.

Q fever: Q fever may result in a rare heart condition called bacterial endocarditis.

Rheumatic Fever: Rheumatic fever is known to be common in developing countries but rare in developed countries. It primarily affects children.

Rocky Mountain Spotted Fever: Rocky Mountain Spotted Fever (RMSF) is known to be a serious bacterial infection caused by infected tick bite.

Sennetsu Fever: Sennetsu Fever is caused by the bacterium Ehrlichia sennetsu. The infection spreads through blood and affect the body’s immune system.

Tropical sprue: Tropical Sprue is a known to be a rare digestive disease due to small intestine’s inability to absorb nutrients. The symptoms of this condition include fatigue and diarrhea.

Tularemia: Tularemia is a rare infectious disease caused by bacterium Francisella tularensis. It is also known as rabbit fever or deer fly fever that affects the skin, eyes, lymph nodes and lungs.

Typhus: Once common and known as Epidemic typhus or louse-borne typhus, this is a bacterial borne disease caused by Rickettsia prowazekii. This condition is now considered rare.

Waterhouse–Friderichsen syndrome: Waterhouse–Friderichsen syndrome is caused by severe meningococcal infection or other bacterial infection caused by Group B streptococcus, Pseudomonas aeruginosa, Streptococcus pneumoniae or Staphylococcus aureus. Children are affected in most cases.

Whipple disease: Whipple disease is known to be extremely rare, affecting one in a million people. The disease is caused by a bacterium called Tropheryma whipplei and affects the intestines.

Yaws: Yaws is known to be an infectious disease caused by a bacterium known as Treponema pertenue. It is common in tropical regions, especially developing countries like African nations but rare in developed countries.

Rare Mental Disorders

Mental illness is quite common among different cultures and regions. For instance, depression is a very common issue but there are a few disorders that are quite rare and can be difficult to diagnose.

Without diagnosis, one cannot expect proper treatment in such cases. The following are some of the Rare Mental Disorders.

However, the list of rare mental disorders is not exhaustive. There may be several other rare mental disorders that may be missing from this list. Please alert us at indiaord@gmail.com if we have missed any disease.

Aspartylglucosaminuria: This is a rare mental disorder where there is a gradual decline in mental functioning. It can affect children and lead to speech problems.

Conversion Disorder: In Conversion disorder – which is a rare mental disease – the patient may experience blindness, paralysis or face nervous breakdown.

Gardner-Diamond Syndrome: This is a rare mental disorder that is known by different names such as Psychogenic Purpura, Gardner–Diamond Syndrome or Autoerythrocyte Sensitization Syndrome. In this rare condition, there is progressive development of skin lesions on the body.

Mietens-Weber Syndrome: In Mietens Weber Syndrome, the condition leads to intellectual disability. The other characteristic of this disease includes related vision problems, including dwarfism.

Presenile Dementia, Kraepelin Type: This rare mental disorder is also known as Kraepelin disease or Catatonia of Kraepelin. In this condition, there is denegation in the cortical portion of the brain.

Amok: This rare mental disorder is also known as “berserker” where the patient acts in a violent and disorderly manner with or without homicidal rare against somebody or something.

Khyal Cap: Loosely translated, it means “wind attacks”, a rare mental disorder characterised by panic attacks or trauma disorders.

Latah: This rare mental disorder makes a patient to go into a trance like situation. Sometimes the patient goes into sudden shock following a traumatic event.

Piblokto: In this rare mental condition, the patients may experience extreme excitement that may force one to get seizures or coma. This condition is also known as “arctic hysteria”.

Wendigo Psychosis: Wendigo psychosis is a rare mental disorder where the patient manifests a desire for cannibalism, a craving for eating human flesh.

Gururumba: This is a rare mental disorder where the patient commits burglaries in the homes of his neighbours. In this condition, the patients become hyperactive.

Alice in Wonderland Syndrome: This is a rare mental disorder where patients diagnosed with Alice in Wonderland Syndrome may hear sounds either louder or quieter or see objects smaller or larger than they usually are. They may also lose a sense of velocity or texture. This condition is also known as Todd Syndrome. This condition is extremely rare and can affect those with a history of drug abuse.

Alien Hand Syndrome: This is a rare mental disorder where the patient struggles with an uncontrollable limb that seems to act on its own. This disorder sometimes manifests in people diagnosed with Alzheimer’s Disease or Creutzfeldt-Jakob Disease, or may be due to a brain surgery.

Apotemnophilia: This is a rare mental disorder where the patient has an irresistible urge to amputate his body parts. This condition is also known as Body Integrity Disorder or Amputee Identity Disorder. The cause of such condition is believed to be a damage suffering to the right parietal lobe of the brain.

Boanthropy: This is a very rare mental disorder where the patient believes that they are cows and tries to walk on all fours and eat grass.

Capgras Delusion: This is a rare mental disorder that is seen with patients diagnosed with dementia, schizophrenia, or epilepsy. In Capras Delusion, the patient suffers from an illusion of doubles.

In his disorder, the patient thinks his non-existent double is out to harm him/her. The disorder is named after Joseph Capgras, a French psychiatrist.

Clinical Lycanthropy: This is a rare mental disorder where those diagnosed with Clinical Lycanthropy believe that they can turn themselves into animals such as wolves. They also begin to act like animals and may live in forests in hiding.

Cotard Delusion: This is a rare mental disorder where the patients believe they are a ghost or zombies. They sometimes feel that their body is rotten. This disorder was first mentioned in 1880 by neurologist Jules Cotard.

Diogenes Syndrome: This is a rare mental disorder where the patient is obsessed with collecting random useless items, a sort of uncontrollable hoarding. They also develop apathy towards themselves.

Dissociative Identity Disorder: This is an extremely rare mental disorder where the patient may have multiple identities and may remain in that identity for long to short durations. This condition is also known as Multiple Personality Disorder.

Factitious Disorder: This is a rare mental disorder where the person believes he or she is ill and keeps pretending it all the time. They make stories about their unreal illness and create their own list of symptoms and treatment. It is believed that such obsession with illness is linked to their past trauma.

Kluver-Bucy Syndrome: This is a rare mental disorder that is characterised by memory loss, an irresistible urge to each object and sexual attraction to them. Those diagnosed with Kluver-Bucy Syndrome have difficulty recognising things and people they are familiar with.

Obsessive Compulsive Disorder: This is a rare mental disorder characterised by fear about irrational thoughts and anxiety. Those diagnosed withobsessive compulsive disorder (OCD)are known to be obsessed with repetitive tasks like excessive cleanliness, etc.

Paris Syndrome: This is a rare mental disorder that particularly affects Japanese visiting Paris. It is characterised by overwhelming anxiety, hallucinations, depersonalisation, derealization, persecutory ideas and delusions after visiting Paris.

Reduplicative Amnesia: In Reduplicative Amnesia, the patient believes that a location is duplicate. They believe that a single location exists in two places. This term was first coined in 1903 by neurologist Arnold Pick. This condition may surface with patients suffering from dementia, brain injury, or other psychiatric disorders.

Stendahl Syndrome: This is a rare mental condition where the patient may experience confusion, dizziness and even hallucinations when they are exposed to works of extreme beauty like art works. The rare condition is named after a 19th century French author.

Rare Psychological Disorders

Rare Blood Diseases

Rare Blood Disorders are a class of disease that is very extensive as they come in several variations based on what blood components it affects.

These blood components include Red Blood Cells (RBCs), White Blood Cells (WBCs), Platelets and Plasma.

These rare blood diseases can be cancerous or non-cancerous. The following are some of the common rare blood disorders. However, this list of rare blood disorders is not comprehensive. There may be several other rare blood disorders that may fit in this list. Please alert us at indiaord@gmail.com if we have missed any disease.

Acute Lymphoblastic Leukemia: In this condition, the disease leads to the development of immature blood cells. It mainly affects children.

Acute Myeloid Leukemia: This is a type of blood cancer that affects white blood cells. This disease is also known as Acute Myelogenous Leukemia, Acute Myeloblastic Leukemia, Acute Granulocytic Leukemia and Acute Nonlymphocytic Leukemia.

Acute Promyelocytic Leukemia: This is a sub-type of Acute Myeloid Leukemia (AML), characterised by an accumulation of immature granulocytes called promyelocytes.

Amyloidosis: It is a build-up of abnormal protein in the bone marrow and can affect organs like the heart, kidneys and liver.

Aplastic Anemia: This condition is triggered by a damaged bone marrow, resulting in no production of new blood cells. The damage to bone marrow could be congenital or occur at a later stage because of excessive exposure to radiation, harmful chemicals or chemotherapy. In this condition, one’s immune system attack bone marrow.

Hypoplastic Anemia: Unlike in Aplastic Anemia, the bone marrow in Hypoplastic Anemia contains few blood cells.

B Cell Acute Lymphoblastic Leukemia: It is a type of blood cancer in which B-cell lymphoblasts – which are a type of immature white blood cells – develop in the bone marrow.

Acute Monocytic Leukemia: In Acute Monocytic Leukemia, there is an excess dominance of monocytes in the bone marrow due to overproduction.

T Cell Acute Lymphoblastic Leukemia: It is a type of Acute Lymphoblastic Leukaemia that is aggressive.

Idiopathic Aplastic Anemia: In Idiopathic Aplastic Anemia, the actual cause of the condition is unknown. It is defined as an acquired bone marrow failure syndrome.

Autoimmune Thrombocytopenic Purpura: This condition is also known as Immune thrombocytopenia or Idiopathic Thrombocytopenic Purpura. In this condition, the skin leaves purple spots.

Chronic Lymphocytic Leukemia: Chronic Lymphocytic Leukemia (CLL) is known to mostly affect adults. It is a type of cancer that affects bone marrow.

Chronic Myeloid Leukemia: This condition leads to increased production of white blood cells. It can affect both adults and kids. This disease is also known as Chronic Myelogenous Leukemia or Chronic Granulocytic Leukemia.

Diamond Blackfan Anemia: It is a condition that affects the bone marrow. This disease may cause physical disability. Those identified with this condition witness underproduction of red blood cells.

Dyskeratosis Congenita: This is a rare genetic condition resulting in bone marrow failure due to lack of production of blood cells.

Eosinophilic Disorders: Eosinophilic disorder gets resulted when the body produces excess eosinophils – a type of immune set-up present in the white blood cell.

Thrombocythemia: This is a disorder that is caused when the body produces excess platelets. It can affect both adults and children.

Fanconi Anemia: Fanconi Anemia This is a rare condition that is inherited in the family. It affects bone marrow because of the reduced production of blood cells.

Hemolytic Anemia: This is a rare condition where blood cells are destroyed (the destruction of blood cells is known as Hemolysis), leading to anemia. Hemolytic anemia can be either acquired or inherited.

Hemophilia: Hemophilia is a rare disorder that affects blood clotting function due to a lack of blood-clotting proteins.

Hereditary Spherocytosis: In Hereditary spherocytosis, there is underproduction of red blood cells. This condition can occur from late childhood to mid-adulthood.

Venous Thrombosis: In venous thrombosis condition, a blood clot is formed in the vein. If it is formed deep in the vein, it is called deep vein thrombosis (DVT) and if it affects lungs, it is called pulmonary embolism (PE).

Autoimmune Hemolytic Anemia: In Autoimmune Hemolytic Anemia, the bone marrow does not produce red blood cells, or they do not function properly. This is a rare condition.

Hypereosinophilic Syndrome: This is a type of rare blood disorder that happens when there is a high production of eosinophils — white blood cells that strengthen one’s immune system.

Microangiopathic Hemolytic Anemia: In this condition, i.e. Microangiopathic haemolytic anaemia, there is damage to the red blood cells.

Intravascular Hemolysis: In Intravascular Hemolysis condition, there is the destruction of red blood cells and release of cell contents into the plasma.

Hemophilia C: This is a rare genetic condition that is caused by a missing blood-clotting protein known as Factor XI. It was first noticed in 1953.

Hemophilia A/ Factor VIII (FVIII) Deficiency/Classic Hemophilia/ Factor 8 Deficiency: Hemophilia A is a hereditary bleeding disorder that happens due to the absence of blood clotting factor VIII. Due to this, blood cannot clot.

Diamond Blackfan Syndrome: This rare medical condition affects bone marrow, resulting in poor blood cells production.

Haemophilia B: In this rare condition, the patients have poor levels of a blood protein called Factor IX, a clotting factor.

Hypereosinophilia: This is a rare blood disorder where the blood has a higher count of eosinophils (white blood cells), usually greater than 1500/μL.

Fanconi Syndrome: This rare genetic disorder is caused when the kidney releases certain chemical compounds into the urine instead of the bloodstream.

Autoimmune Hemolytic Anemia (AIHA) / Aiha Anemia: Autoimmune Hemolytic Anemia, or AIHA Anemia is a rare type of anemia that affects the bone marrow. There is underproduction of red blood cells in this condition.

Superficial Vein Thrombosis: In Superficial vein thrombosis (SVT), a blood clot formed in a vein near the surface of the body, i.e. skin.

Hemochromatosis H63D: Hemochromatosis H63D is a hereditary disorder where the patient has excess iron in their blood.

Inherited Bone Marrow Failure Syndromes (IBMFS): They are a group of rare blood disorders where the bone marrow cannot produce blood.

Langerhans Cell Histiocytosis: This is a rare blood disorder where an overproduction of Langerhans cells (a type of white blood cell) grows in organs and gradually damages them.

Large Granular Lymphocytic Leukemia: Large Granular Lymphocytic (LGL) Leukemia is a rare blood disorder that affects “lymphocytes” reducing body’s immune system.

Monoclonal Gammopathy: Monoclonal gammopathies are rare blood disorders where there is an excess presence of proteins in the blood.

Non Hodgkin’s Lymphoma: This a rare blood disorder where the body produces excess abnormal lymphocytes, a type of white blood cell.

Acute Lymphoblastic Leukemia: This a rare blood disorder and is a type of cancer that affects white blood cells.

Microcytic Hypochromic Anemia: This a rare blood disorder that results due to a deficiency of iron.

Multiple Myeloma: It is a type of rare blood cancer that is formed in a white blood cell known as a plasma cell.

Myelofibrosis: This is rare bone marrow cancer that affects the production of blood cells, causing severe anaemia.

Myeloproliferative Neoplasms: They are a group of rare diseases of the bone marrow that are responsible for excess production of red blood cells, white blood cells, or platelets. There are six different types of Myeloproliferative Neoplasms.

Paroxysmal Nocturnal Hemoglobinuria (PNH): Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and often fatal blood disorder where it leads to the destruction of red blood cells (hemolytic anemia), blood clots (thrombosis) and defective bone marrow function.

Pernicious Anemia: In Pernicious anaemia, there is underproduction of red blood cells. The reason for pernicious anaemia is often the deficiency in vitamin B-12, which is needed for the body to produce red blood cells.

Polycythemia Vera: It is a rare blood cancer where the bone marrow produces excess red blood cells, which may lead to blood clots as it thickens the blood. It is also called Polycythaemia Rubra Vera (PRV).

Porphyria: Porphyria is a group of rare disorders caused by an over-accumulation of porphyrin which helps haemoglobin, the protein that carries oxygen in the blood.

Myelodysplastic Syndrome: They are a group of rare blood disorders where blood cells do not function properly.

Myeloproliferative Disorder: They are a group of rare disorders that lead to abnormal growth of blood cells in the bone marrow.

Myelodysplastic Syndrome: In myelodysplastic syndrome (MDS), the bone marrow has immature blood cells that affect healthy production of blood cells. They are a group of rare cancer.

Hemoglobinuria: When there is an abnormal presence of hemoglobin in the urine, it is known as hemoglobinuria.

Saddle Pulmonary Embolism: In Saddle PE, there is a large blood clot (thrombus) at the main pulmonary artery branches going into the lungs.

Plasma Cell Myeloma: This is a rare type of cancer that affects white blood cells. This condition is also known as Kahler disease, multiple myeloma, and myelomatosis.

Chronic Myeloproliferative Disorders: Chronic Myeloproliferative Disorders (MPD) are a group of rare blood cancers. They are difficult to diagnose.

Smoldering Multiple Myeloma: This condition precedes a rare blood cancer known as Multiple Myeloma.

Primary Myelofibrosis: This rare condition affects the bone marrow, where it leads toabnormalities in blood cell production called hematopoiesis. The bone marrow also notices scarring.

Shwachman Diamond Syndrome: Shwachman–Diamond syndrome (SDS) is an inherited bone marrow failure where there are fewer white blood cells and poor growth, leading to physical abnormalities.

Sickle Cell Disease: It is an inherited blood disorder that affects the red blood cells to break down and change into a sickle shape.

Thrombocytopenia: This condition is caused bydeficiency of platelets in the blood.

Thrombotic Thrombocytopenic Purpura: This condition can turn fatal as Thrombotic Thrombocytopenic Purpura can cause blot clots in blood vessels, stopping blood flow to the heart. is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.

Von Willebrand Disease: This is a rare blood disorder that is an inherited disease. It is caused due to lack of clotting protein in the blood.

Waldenstrom Macroglobulinemia: It is a type of slow-growing non-Hodgkin lymphoma with abnormally high levels of IgM antibodies in the blood. This condition is also called lymphoplasmacytic lymphoma.

Thalassemia: Thalassemia is a blood disorder that is caused by a lack of oxygen-carrying haemoglobin due to the presence of fewer red blood cells.

Beta Thalassemia: In this condition (Beta thalassemia), production of hemoglobin does not happen normally.

Von Willebrand Factor: This is an inherited rare blood disorder caused due to deficiency of plasma coagulation factor that makes bleeding unstoppable.

Heparin Induced Thrombocytopenia: This is often a fatal disorder. In Heparin induced thrombocytopenia (HIT), it leads to an adverse drug reaction caused by the emergence of antibodies that activate platelets in the presence of heparin.

Aplastic Crisis: In Aplastic Crisis, the production of new red blood cells gets affected. As a result, the older ones already in the blood cannot be replaced.

Rare Blood Cancers

Chromosomal Aberrations

Chromosomal Disorders

Genetic Disorders

Rare Connective Tissue Disorders

Congenital Disorder

Rare ENT Disorders

Endocrine Disorders

Environmental Disorders

Rare Eye Diseases

Rare Eye Diseases encompass a collection of uncommon ocular conditions that affect the delicate structures of the eye. These conditions often involve abnormalities in the eye’s anatomy, function, or its ability to transmit visual information to the brain accurately.

In these conditions, various parts of the eye may be affected, including the cornea, retina, optic nerve, or the eye’s external structures. These diseases can lead to a range of visual impairments, from mild discomfort to severe vision loss, and they often require specialized medical care and treatment.

The list provided below offers a glimpse into some of the Rare Eye Diseases, although it’s important to note that this compilation may not be exhaustive. Numerous other rare eye conditions exist, each with its unique characteristics and impact on vision.

If you are aware of any rare eye diseases that are not included in this list, we encourage you to contact us at indiaord@gmail.com so that we may expand our knowledge and awareness of these conditions.

Duane Refraction: Eye movement disorder affecting the ability to move the eyes horizontally.

Retinoblastoma: Retinoblastoma is a rare eye cancer that primarily affects children. While it is a medical condition, it is not considered a birth defect as it is an acquired condition.

Retinitis Pigmentosa (RP): Retinitis pigmentosa is a group of genetic eye disorders that result in the gradual degeneration of the light-sensitive cells in the retina, called photoreceptors. This leads to progressive vision loss, initially affecting peripheral vision and night vision. RP is relatively rare, with an estimated prevalence of 1 in 4,000 people worldwide. However, the prevalence can vary depending on the population studied and the specific genetic mutations involved.

Stargardt Disease: Stargardt disease, also known as Stargardt macular dystrophy, is an inherited eye condition that primarily affects the macula, the central part of the retina. It leads to central vision loss, usually starting in childhood or adolescence. Stargardt disease is one of the most common forms of inherited juvenile macular degeneration, with an estimated prevalence of 1 in 8,000 to 10,000 individuals.

Ocular Albinism: Ocular albinism is a genetic disorder that primarily affects the pigmentation of the eyes, resulting in reduced pigmentation in the iris and retina. This can lead to vision problems, including reduced visual acuity and nystagmus (involuntary eye movements). Ocular albinism is relatively rare and occurs in approximately 1 in 50,000 to 1 in 100,000 individuals, with variations based on geographic and genetic factors.

Leber Congenital Amaurosis (LCA): Leber congenital amaurosis is a severe inherited retinal dystrophy that typically presents in infancy or early childhood. It causes severe visual impairment or blindness due to abnormalities in retinal function. LCA is rare, with an estimated prevalence of 1 in 40,000 to 1 in 100,000 live births. However, its prevalence can vary among different populations.

Retinoschisis: Retinoschisis is an inherited eye disease characterized by the splitting or separation of the layers of the retina. This condition can lead to vision problems, including decreased visual acuity and difficulty with color perception. The prevalence of retinoschisis is relatively low, and it is estimated to affect 1 in 5,000 to 1 in 25,000 individuals.

Aniridia: Aniridia is a rare genetic eye disorder characterized by the absence or severe underdevelopment of the iris, the colored part of the eye. It can lead to a range of eye problems, including sensitivity to light and vision issues. Aniridia is very rare, with an estimated prevalence of 1 in 50,000 to 1 in 100,000 live births.

Ocular Melanoma: Ocular melanoma is a rare form of cancer that develops in the cells responsible for eye pigmentation. It typically occurs in the uvea, the middle layer of the eye, and can potentially lead to vision loss. Ocular melanoma is rare, with an estimated prevalence of 5 to 6 cases per 1 million people per year.

Fuchs’ Dystrophy: Fuchs’ dystrophy is a progressive eye disorder that affects the cornea, leading to a gradual decline in vision. It is characterized by the buildup of fluid in the cornea, causing it to become swollen and cloudy. Fuchs’ dystrophy is relatively common among corneal disorders, with prevalence increasing with age. It affects more women than men.

Birdshot Chorioretinopathy: Birdshot chorioretinopathy is a rare autoimmune eye disease that primarily affects the choroid and retina. It can lead to blurred vision, floaters, and night blindness. Birdshot chorioretinopathy is rare, and its prevalence is estimated to be around 1 in 200,000 individuals.

Behçet’s Disease: Behçet’s disease is a rare autoimmune disorder characterized by recurring inflammation of blood vessels throughout the body. Ocular involvement, known as ocular Behçet’s disease, can lead to uveitis, retinal vasculitis, and vision loss. Behçet’s disease is more commonly found in regions along the ancient Silk Road, including parts of Asia, the Middle East, and the Mediterranean. Its worldwide prevalence is estimated to range from 1 in 5,000 to 1 in 20,000 individuals.

Sjögren’s Syndrome: Sjögren’s syndrome is an autoimmune disorder that primarily affects the body’s moisture-producing glands, leading to dryness in various parts of the body, including the eyes. Ocular symptoms may include dry eyes and corneal damage. Sjögren’s syndrome is relatively common among autoimmune diseases, affecting approximately 0.1% to 4% of the population, with a higher prevalence in women.

Cone Dystrophy: Cone dystrophy is a group of inherited eye disorders that primarily affect the cone cells in the retina, leading to color vision deficiency and decreased central visual acuity. The prevalence of cone dystrophy is relatively low, and it is estimated to occur in 1 in 30,000 to 1 in 40,000 individuals.

Optic Nerve Hypoplasia: Optic nerve hypoplasia is a congenital condition in which the optic nerve does not develop fully, resulting in vision impairment that can range from mild to severe. The prevalence of optic nerve hypoplasia is challenging to determine precisely, but it is considered rare. Its occurrence may vary among different populations.

Coat’s Disease: Coat’s disease is a rare eye disorder that primarily affects children and young adults. It is characterized by abnormal blood vessel development in the retina, which can lead to retinal detachment and vision loss. Coat’s disease is rare, and its prevalence is estimated to be less than 1 in 100,000 individuals.

Alport Syndrome (associated with eye abnormalities): Alport syndrome is a genetic disorder that primarily affects the kidneys, ears, and eyes. Eye abnormalities associated with Alport syndrome may include anterior lenticonus, cataracts, and retinal flecks. Alport syndrome is relatively rare, affecting approximately 1 in 5,000 individuals, although the prevalence may vary based on the specific genetic mutations involved.

Macular Telangiectasia (MacTel): Macular telangiectasia is a progressive eye condition characterized by abnormalities in the blood vessels around the macula, leading to vision changes such as blurriness and difficulty reading. Macular telangiectasia is considered rare, with a prevalence estimated to be around 1 in 40,000 to 1 in 100,000 individuals.

North Carolina Macular Dystrophy (NCMD): North Carolina macular dystrophy is a rare inherited eye disorder that affects the macula, causing central vision loss. NCMD is rare, and its prevalence is estimated to be around 1 in 60,000 to 1 in 80,000 individuals.

Bietti’s Crystalline Dystrophy: Bietti’s crystalline dystrophy is a rare inherited eye disease that affects the retina and choroid, leading to crystal-like deposits in the eye and gradual vision loss. Bietti’s crystalline dystrophy is rare, with a prevalence estimated to be around 1 in 200,000 individuals.

Leber’s Congenital Amaurosis (LCA): LCA is a severe inherited retinal disease that affects infants and is characterized by severe vision loss or blindness from birth. It is caused by genetic mutations that affect the function of the retina’s photoreceptor cells. LCA is rare, with an estimated prevalence of 1 in 80,000 individuals.

Kearns-Sayre Syndrome: Kearns-Sayre Syndrome is a rare mitochondrial disorder that affects various parts of the body, including the eyes. It can lead to symptoms such as progressive external ophthalmoplegia (eye muscle weakness), ptosis (drooping of the eyelids), and pigmentary retinopathy. The exact prevalence is unknown but is considered very rare.

Stargardt Disease: Stargardt disease is a hereditary eye condition that causes progressive vision loss due to the deterioration of the macula, a part of the retina. It typically begins in childhood or adolescence. The prevalence of Stargardt disease is estimated to be around 1 in 8,000 to 1 in 10,000 individuals.

Benign Essential Blepharospasm: Blepharospasm is a neurological disorder characterized by involuntary blinking or spasms of the eyelids. When it becomes chronic and interferes significantly with vision, it is referred to as benign essential blepharospasm. The prevalence is approximately 1 in 20,000 individuals.

Incontinentia Pigmenti: Incontinentia pigmenti is a rare genetic disorder that affects the skin, hair, teeth, and eyes. Eye abnormalities may include retinal detachments and other retinal issues. The prevalence is very low, with an estimated 1 in 50,000 individuals, primarily affecting females.

Best Disease (Vitelliform Macular Dystrophy): Best disease is an inherited eye disorder characterized by the accumulation of lipofuscin in the retina, leading to central vision loss. It is relatively rare, with a prevalence estimated to be around 1 in 10,000 to 1 in 50,000 individuals.

Aniridia: Aniridia is a genetic eye disorder characterized by the partial or complete absence of the iris, the colored part of the eye. This condition can lead to various vision problems, including sensitivity to light and reduced visual acuity. The prevalence of aniridia is estimated to be around 1 in 50,000 to 1 in 100,000 individuals.

Sorsby Fundus Dystrophy: Sorsby fundus dystrophy is a rare inherited eye disease that affects the retina and leads to progressive vision loss. It typically begins in mid-adulthood and is characterized by the development of drusen, which are yellow deposits under the retina. The prevalence of Sorsby fundus dystrophy is very low, and it is considered an extremely rare condition.

Sjögren-Larsson Syndrome: Sjögren-Larsson syndrome is a rare genetic disorder that affects the skin, nervous system, and eyes. It is characterized by intellectual disabilities, spasticity, and a skin condition called ichthyosis. Eye abnormalities may include retinal issues. The prevalence of Sjögren-Larsson syndrome is estimated to be around 1 in 250,000 to 1 in 500,000 individuals.

X-linked Retinoschisis: X-linked retinoschisis is a genetic eye disorder that affects the retina, leading to progressive vision loss in males. It is characterized by the splitting of the retinal layers, which can cause visual impairment. The prevalence is estimated to be around 1 in 5,000 to 1 in 25,000 males.

Punctate Inner Choroidopathy (PIC): Punctate inner choroidopathy is a rare eye disease that primarily affects young adults. It is characterized by the development of small, yellow-white lesions in the choroid, which can lead to vision disturbances. The prevalence of PIC is low, and specific numbers are not widely reported, but it is considered a rare condition.

Congenital Ectropion Uveae: Congenital ectropion uveae is a rare eye condition present from birth, where the colored part of the eye (iris) extends abnormally onto the front surface of the eye. It can lead to glaucoma and other eye problems. This condition is exceedingly rare, and prevalence data is limited.

Tonic Pupil (Adie’s Pupil): Tonic pupil, also known as Adie’s pupil, is a neurological disorder characterized by an abnormally enlarged and poorly responsive pupil in one eye. It typically occurs due to damage to the ciliary ganglion. The prevalence is relatively low, and specific numbers are not widely reported.

Bietti Crystalline Dystrophy: Bietti crystalline dystrophy is a rare inherited eye disease that affects the retina and choroid, leading to crystal-like deposits in the eye and gradual vision loss. It is rare, with a prevalence estimated to be around 1 in 200,000 individuals.

Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV): ADNIV is a rare genetic eye disorder that causes neovascularization (abnormal blood vessel growth) in the retina and other eye structures, leading to vision problems. The prevalence of ADNIV is not well-documented, but it is considered a rare condition.

Scleritis: Scleritis is a painful inflammation of the sclera, the white part of the eye. It can be associated with various underlying autoimmune and inflammatory conditions. The prevalence of scleritis is relatively low, and specific numbers may vary depending on the population studied.

Microphthalmia: Microphthalmia is a congenital condition in which one or both eyes are abnormally small and underdeveloped. This can result in visual impairment. The prevalence of microphthalmia varies depending on its severity and associated conditions, but it is considered rare, affecting approximately 1 in 10,000 to 1 in 20,000 births.

Congenital Glaucoma: Congenital glaucoma is a rare eye condition that occurs at birth or shortly thereafter, leading to increased intraocular pressure and potential optic nerve damage if left untreated. Its prevalence is estimated to be around 1 in 10,000 to 1 in 20,000 births.

Macular Telangiectasia (MacTel): Macular telangiectasia is a progressive eye condition characterized by abnormalities in the blood vessels around the macula, leading to vision changes such as blurriness and difficulty reading. The prevalence of MacTel is considered rare, with estimates ranging from 1 in 40,000 to 1 in 100,000 individuals.

Fuch’s Heterochromic Iridocyclitis (FHI): Fuch’s heterochromic iridocyclitis is an inflammatory eye condition characterized by chronic uveitis, iris color changes, and cataracts. It is relatively rare, and its prevalence is not widely reported, but it is considered an uncommon condition.

Iridocorneal Endothelial Syndrome (ICE): Iridocorneal endothelial syndrome is a group of rare eye disorders that primarily affect the corneal endothelium and can lead to glaucoma. The prevalence of ICE syndromes varies among subtypes but is generally considered rare.

Gyrate Atrophy: Gyrate atrophy is a rare inherited eye disease characterized by progressive vision loss due to the degeneration of the retina. It is caused by a deficiency of the enzyme ornithine aminotransferase. The prevalence of gyrate atrophy is low, and it is considered a rare condition.

Albinism-related Ocular Conditions (e.g., Hermansky-Pudlak Syndrome): Albinism is a group of genetic conditions characterized by reduced melanin production, leading to various eye and skin issues. Conditions like Hermansky-Pudlak Syndrome may be associated with albinism and are considered rare, with varying prevalence rates depending on the specific condition.

Batten Disease (Neuronal Ceroid Lipofuscinosis): Batten disease, or neuronal ceroid lipofuscinosis, is a group of rare genetic disorders that affect the nervous system and can lead to vision loss, among other symptoms. The prevalence of Batten disease varies among its subtypes but is generally rare.

Achromatopsia: Achromatopsia, also known as complete color blindness, is a rare genetic eye disorder characterized by a lack of cone cell function, resulting in severe vision impairment, light sensitivity, and the inability to perceive color. Its prevalence is estimated to be around 1 in 30,000 to 1 in 50,000 individuals.

Norrie Disease: Norrie disease is a rare genetic disorder primarily affecting males and is characterized by congenital blindness, often present at birth or in early infancy. It can also cause progressive hearing loss and developmental delays. Norrie disease is exceptionally rare, with an estimated prevalence of fewer than 1 in 1 million individuals.

Congenital Stationary Night Blindness (CSNB): CSNB is a group of inherited retinal disorders that result in night blindness and reduced visual acuity. These conditions typically manifest at birth or in childhood and are non-progressive. The prevalence of CSNB varies depending on the specific subtype but is generally considered rare.

Oculocutaneous Albinism (OCA): Oculocutaneous albinism is a group of genetic conditions characterized by a lack of melanin pigment in the skin, hair, and eyes, leading to vision problems and increased sensitivity to light. The prevalence of OCA varies by subtype, with OCA1 being the most common, affecting approximately 1 in 20,000 individuals, while other subtypes are rarer.

Blue Cone Monochromacy: Blue cone monochromacy is a rare genetic eye disorder in which individuals have only one functioning type of cone photoreceptor, resulting in difficulties perceiving color and low visual acuity. It is extremely rare, with an estimated prevalence of less than 1 in 100,000 individuals.

Xeroderma Pigmentosum (XP): Xeroderma pigmentosum is a rare genetic disorder that impairs the body’s ability to repair DNA damage caused by ultraviolet (UV) light. This leads to extreme sensitivity to sunlight, skin changes, and an increased risk of skin cancers. The prevalence of XP is approximately 1 in 1 million individuals.

Goldman-Favre Syndrome: Goldman-Favre syndrome is a rare inherited eye disorder characterized by progressive vision loss, retinal changes, and night blindness. The prevalence of this syndrome is not widely reported, but it is considered a rare condition.

Stickler Syndrome: Stickler syndrome is a group of genetic disorders that primarily affect connective tissues and can result in eye issues such as myopia, cataracts, and retinal detachments. The prevalence of Stickler syndrome is estimated to be around 1 in 7,500 to 1 in 9,000 individuals.

Aicardi Syndrome: Aicardi syndrome is a rare genetic disorder that primarily affects females and is characterized by the absence of the corpus callosum (a structure connecting the brain’s hemispheres), along with other neurological and eye abnormalities. It is exceptionally rare, with an estimated prevalence of fewer than 1 in 100,000 individuals.

Blue Sclera Syndrome: Blue sclera syndrome is a rare condition characterized by the blue or bluish-gray discoloration of the white part of the eyes (sclera). It can be associated with conditions like osteogenesis imperfecta. The prevalence of blue sclera syndrome is not widely reported, but it is considered rare.

Bietti Crystalline Dystrophy: Bietti crystalline dystrophy is a rare inherited eye disease that affects the retina and choroid, leading to crystal-like deposits in the eye and gradual vision loss. The prevalence of Bietti crystalline dystrophy is rare, with an estimated prevalence of around 1 in 200,000 individuals.

Solar Retinopathy: Solar retinopathy is a rare eye condition caused by direct exposure of the eyes to the sun, particularly during solar eclipses. It leads to damage to the retinal cells, causing symptoms such as blurry vision, central scotomas (blind spots), and discomfort. Solar retinopathy is relatively rare but can occur during solar events.

Leber’s Hereditary Optic Neuropathy (LHON): LHON is a rare genetic disorder that primarily affects the optic nerve, leading to acute vision loss, typically in young adults. It is caused by mutations in mitochondrial DNA. The prevalence of LHON varies among different populations but is estimated to affect approximately 1 in 30,000 to 1 in 50,000 individuals.

Acute Zonal Occult Outer Retinopathy (AZOOR): AZOOR is a rare retinal disease characterized by progressive vision loss and photopsia (perceived flashes of light). It typically affects specific zones in the outer retina. The prevalence of AZOOR is not widely reported, but it is considered a rare condition.

Paraneoplastic Pemphigus (may affect the eyes): Paraneoplastic pemphigus is a rare autoimmune blistering disorder associated with malignancies. While it primarily affects the skin and mucous membranes, it may also involve the eyes, causing ocular symptoms. The prevalence of paraneoplastic pemphigus is low and occurs in the setting of cancer.

Coats’ Plus Syndrome: Coats’ plus syndrome is a rare genetic disorder characterized by retinal telangiectasia (abnormalities in retinal blood vessels), brain calcifications, and other systemic features. It is exceptionally rare, and prevalence data are limited.

Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis): Batten disease, also known as juvenile neuronal ceroid lipofuscinosis, is a rare inherited disorder that primarily affects the nervous system, leading to vision loss, seizures, and cognitive decline in children. It is a group of disorders caused by various genetic mutations, with different types and prevalence rates.

Choroideremia: Choroideremia is a rare X-linked genetic eye disorder characterized by progressive degeneration of the choroid, retina, and retinal pigment epithelium, leading to vision loss. The prevalence of choroideremia is estimated to be around 1 in 50,000 individuals, primarily affecting males.

Albinism: Albinism refers to a group of genetic conditions characterized by a lack of melanin pigment in the skin, hair, and eyes, leading to vision problems and increased sensitivity to light. The prevalence of albinism varies by subtype, with OCA1 being the most common, affecting approximately 1 in 20,000 individuals.

Goldmann-Favre Syndrome: Goldmann-Favre syndrome is a rare inherited eye disorder characterized by progressive vision loss, retinal changes, and night blindness. The prevalence of this syndrome is not widely reported, but it is considered a rare condition.

Hypopigmentation Syndromes (e.g., Hermansky-Pudlak Syndrome): Hypopigmentation syndromes are a group of rare genetic disorders characterized by a lack of pigmentation in the skin, hair, and eyes. Hermansky-Pudlak Syndrome is one such syndrome that can also affect the eyes, leading to vision problems. The prevalence of these syndromes varies, with Hermansky-Pudlak Syndrome being more common among certain populations, such as Puerto Ricans.

Ocular Albinism: Ocular albinism is a rare genetic condition that primarily affects the eyes, leading to reduced pigmentation in the retina, iris, and optic nerve. This condition results in various vision problems, including nystagmus and photophobia. The prevalence of ocular albinism varies by subtype, but it is considered rare, affecting approximately 1 in 50,000 individuals.

Phacomatosis Pigmentovascularis: Phacomatosis pigmentovascularis is a rare group of genetic disorders characterized by the coexistence of cutaneous vascular malformations (usually port-wine stains) and pigmented nevi on the skin. It can affect the eyes in some cases. The prevalence of phacomatosis pigmentovascularis is not well-documented, but it is considered a rare condition.

Retinal Vasoproliferative Tumor: Retinal vasoproliferative tumor is a rare benign tumor that can occur in the retina, leading to vision problems such as blurred vision and distortion. The prevalence of this tumor is not widely reported, but it is considered a rare ocular condition.

Snowflake Vitreoretinal Degeneration: Snowflake vitreoretinal degeneration is a rare inherited eye disorder characterized by changes in the vitreous humor and retina, leading to vision problems. The prevalence of snowflake vitreoretinal degeneration is not well-documented, but it is considered a rare condition.

Multifocal Choroiditis: Multifocal choroiditis is a rare eye condition characterized by inflammation in the choroid, leading to vision problems such as scotomas (blind spots) and distortion. The prevalence of multifocal choroiditis is not widely reported but is considered a rare ocular condition.

Serpiginous Choroiditis: Serpiginous choroiditis is a rare inflammatory eye disease that primarily affects the choroid and retina, leading to vision loss. The prevalence of serpiginous choroiditis is not well-documented, but it is considered a rare condition.

Ocular Toxoplasmosis: Ocular toxoplasmosis is a rare eye infection caused by the parasite Toxoplasma gondii. It can lead to inflammation in the retina and other ocular complications, resulting in vision problems. The prevalence of ocular toxoplasmosis varies by geographic region but is considered relatively rare in some populations.

Autosomal Recessive Bestrophinopathy (ARB): Autosomal recessive bestrophinopathy is a rare genetic eye condition characterized by mutations in the BEST1 gene, leading to abnormal deposits in the retina and vision problems. The prevalence of ARB is not widely reported but is considered a rare condition.

Autosomal Recessive Retinitis Pigmentosa (ARRP): Autosomal recessive retinitis pigmentosa is a genetic disorder that affects the retina, leading to progressive vision loss and night blindness. The prevalence of ARRP varies among different populations but is generally considered rare.

Dominant Drusen (Doyne’s Honeycomb Retinal Dystrophy): Dominant drusen, also known as Doyne’s honeycomb retinal dystrophy, is a rare inherited eye disorder characterized by the accumulation of drusen deposits in the retina, leading to vision problems. The prevalence of dominant drusen is not well-documented but is considered a rare condition.

Enhanced S-Cone Syndrome: Enhanced S-cone syndrome is a rare genetic eye disorder that affects the photoreceptor cells in the retina, leading to an increase in S-cones and vision problems, including sensitivity to blue light. The prevalence of enhanced S-cone syndrome is not widely reported but is considered rare.

Joubert Syndrome: Joubert syndrome is a rare genetic disorder that can affect various parts of the body, including the eyes. It is characterized by brain abnormalities and a distinctive midbrain-hindbrain malformation called the “molar tooth sign.” Ocular manifestations can include eye movement abnormalities and retinal dystrophy. The prevalence of Joubert syndrome is estimated to be around 1 in 80,000 individuals.

Marshall Syndrome: Marshall syndrome is a rare genetic disorder that primarily affects the connective tissues in the body. Ocular features may include myopia and changes in the shape of the eye’s lens. The prevalence of Marshall syndrome is not widely reported but is considered rare.

Rod-Cone Dystrophy (RCD): Rod-cone dystrophy is a group of rare genetic disorders that primarily affect the rod and cone cells in the retina, leading to progressive vision loss and night blindness. The prevalence of RCD varies among different forms and genetic mutations but is generally considered rare.

Knobloch Syndrome: Knobloch syndrome is a rare genetic disorder characterized by abnormalities in the eye, including high myopia, vitreoretinal degeneration, and risk of retinal detachment. The prevalence of Knobloch syndrome is not well-documented but is considered a rare condition.

Usher Syndrome: Usher syndrome is a rare genetic disorder that affects hearing and vision. It is divided into three types (I, II, and III) based on the severity of hearing loss and the age of onset of vision problems. Usher syndrome can lead to retinitis pigmentosa and varying degrees of vision loss. The prevalence of Usher syndrome varies by type but is generally considered rare. Usher syndrome is relatively rare, with an estimated prevalence of 1 in 25,000 to 1 in 40,000 individuals. It is one of the most common causes of combined deafness and blindness.

Familial Exudative Vitreoretinopathy (FEVR): Familial exudative vitreoretinopathy is a genetic eye disorder that affects the development of blood vessels in the retina. It can result in abnormal blood vessel growth and retinal detachment, leading to vision problems.

Macular Telangiectasia (Juxtafoveal Telangiectasis): Macular telangiectasia is a progressive eye condition characterized by abnormalities in the blood vessels around the macula, leading to vision changes such as blurriness and difficulty reading.

Norrie Disease: Norrie disease is a rare genetic disorder that primarily affects the eyes and can lead to congenital blindness. It is caused by mutations in the NDP gene and is associated with a range of eye abnormalities.

Sorsby Fundus Dystrophy: Sorsby fundus dystrophy is a rare inherited eye disease that affects the retina and can lead to gradual vision loss due to the development of drusen and macular degeneration.

Ocular Albinism: Ocular albinism is a genetic condition characterized by a lack of pigmentation in the eyes. It can result in various eye problems, including nystagmus, strabismus, and reduced visual acuity.

Autosomal Dominant Optic Atrophy (ADOA): Autosomal dominant optic atrophy is a genetic eye disorder that primarily affects the optic nerve, leading to vision problems such as optic atrophy and reduced visual acuity.

Alport Syndrome: Alport syndrome is a genetic disorder that primarily affects the kidneys, ears, and eyes. Eye abnormalities associated with Alport syndrome may include anterior lenticonus, cataracts, and retinal flecks.

Blue Cone Monochromacy: Blue cone monochromacy is a rare genetic eye disorder characterized by the absence of functional red and green cone cells, leading to severe color vision deficiency and reduced visual acuity.

Dominant Drusen: Dominant drusen, also known as Doyne’s honeycomb retinal dystrophy, is a genetic eye condition characterized by the accumulation of drusen deposits in the retina, which can lead to vision problems.

Fleck Retina of Kandori: Fleck retina of Kandori is a rare eye condition characterized by the presence of small, yellowish-white flecks in the retina, which may or may not affect vision.

Goldmann-Favre Syndrome: Goldmann-Favre syndrome is a rare inherited eye disorder that affects the retina and can lead to night blindness, retinal degeneration, and vision loss.

Jalili Syndrome: Jalili syndrome is a rare genetic condition that can affect various parts of the body, including the eyes. It is characterized by a combination of cone-rod dystrophy and amelogenesis imperfecta, a dental condition.

Leber’s Miliary Aneurysms: Leber’s miliary aneurysms are small aneurysms that can develop in the retina’s blood vessels. These aneurysms are a characteristic feature of Coats’ disease, a rare eye condition that primarily affects children and can lead to vision loss.

Morgagnian Cataract: Morgagnian cataract is a specific type of cataract where the lens of the eye becomes partially or completely liquefied. It is a relatively rare form of cataract and may require surgical intervention for vision correction.

North Carolina Macular Dystrophy: North Carolina macular dystrophy is a rare inherited eye disorder that affects the macula, causing central vision loss. It typically begins in adulthood and progresses slowly.

Ocular Albinism Type 1 (OA1): Ocular albinism type 1 (OA1) is a genetic condition that primarily affects the eyes, leading to reduced pigmentation in the eyes and vision problems.

Persistent Hyperplastic Primary Vitreous (PHPV): Persistent hyperplastic primary vitreous is a congenital eye condition where the tissue that normally regresses during fetal development remains in the eye, causing visual impairment.

Pseudoexfoliation Syndrome: Pseudoexfoliation syndrome is an age-related eye condition characterized by the accumulation of abnormal material on the lens and other structures in the eye, which can lead to glaucoma and other vision problems.

Retinal Arterial Macroaneurysm (RAM): Retinal arterial macroaneurysm is a condition where a localized dilation or aneurysm occurs in the retinal artery. It can lead to retinal hemorrhage and vision impairment.

Retinoschisis: Retinoschisis is an inherited eye disorder that causes the splitting of the retinal layers, typically in the macula. It can result in vision loss, particularly in males.

Wagner Syndrome: Wagner syndrome is a rare genetic eye disorder characterized by changes in the vitreous gel of the eye, which can lead to retinal detachment and vision problems.

Ocular Cicatricial Pemphigoid: Ocular cicatricial pemphigoid is a rare autoimmune disorder characterized by chronic inflammation that primarily affects the mucous membranes, including those in the eyes. It can lead to scarring of the conjunctiva and damage to the cornea, resulting in vision problems.

Mooren’s Ulcer: Mooren’s ulcer is a rare, painful eye condition characterized by the progressive formation of ulcers on the cornea. It typically involves inflammation and vascularization of the cornea and can lead to severe visual impairment.

Sympathetic Ophthalmia: Sympathetic ophthalmia is a rare, potentially sight-threatening condition that can occur following eye injury or surgery. It involves inflammation in both eyes and is believed to be an autoimmune response to antigens released from the injured eye.

Vogt-Koyanagi-Harada (VKH) Disease: Vogt-Koyanagi-Harada (VKH) disease is a rare autoimmune condition that primarily affects pigmented tissues in the eyes, ears, skin, and the covering of the brain and spinal cord (meninges). It can result in uveitis, vision loss, and other systemic symptoms.

Autoimmune Retinopathy (AIR): Autoimmune retinopathy is a rare autoimmune condition that affects the retina, leading to vision loss. It is characterized by autoantibodies that target retinal proteins.

Scleritis (can be associated with autoimmune conditions): Scleritis is a condition involving inflammation of the sclera, the white outer layer of the eye. While it can have various causes, including autoimmune conditions, its prevalence can vary depending on the underlying condition.

Necrotizing Scleritis (can be autoimmune-related): Necrotizing scleritis is a severe form of scleritis that involves tissue destruction and can be associated with autoimmune diseases. Its prevalence may be linked to the prevalence of underlying autoimmune conditions.

Autoimmune Uveitis: Autoimmune uveitis is an inflammatory condition affecting the uvea, which is the middle layer of the eye. It is often associated with autoimmune diseases and can lead to vision problems.

Acanthamoeba Keratitis: Acanthamoeba keratitis is a rare eye infection caused by a microorganism called Acanthamoeba. It typically affects contact lens wearers and can lead to severe corneal damage if not treated promptly.

Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN): Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis are severe and rare allergic reactions that can affect the skin and mucous membranes, including the eyes. These conditions can cause extensive damage to the cornea and other ocular tissues.

Map-Dot-Fingerprint Dystrophy (Cogan’s Dystrophy): Map-Dot-Fingerprint Dystrophy, also known as Cogan’s dystrophy, is a genetic eye condition that results in irregularities in the cornea’s basement membrane. This can lead to blurred vision, discomfort, and recurrent corneal erosions.

Fuchs’ Endothelial Dystrophy: Fuchs’ endothelial dystrophy is a hereditary eye condition that primarily affects the endothelial cells of the cornea. It can lead to progressive corneal swelling and vision impairment.

Keratoconus: Keratoconus is a corneal disorder characterized by the thinning and bulging of the cornea into a cone shape. This condition can result in distorted vision and may require specialized contact lenses or surgical interventions.

Posterior Polymorphous Dystrophy (PPMD): Posterior Polymorphous Dystrophy is a rare genetic disorder that affects the corneal endothelium, leading to various eye symptoms and potential vision problems.

Congenital Hereditary Endothelial Dystrophy (CHED): Congenital Hereditary Endothelial Dystrophy is a genetic disorder that causes corneal clouding and vision impairment from birth.

Lattice Dystrophy: Lattice Dystrophy is a genetic eye condition characterized by abnormal protein deposits in the cornea. These deposits can lead to vision issues and discomfort.

Granular Corneal Dystrophy: Granular Corneal Dystrophy is an inherited disorder that results in the accumulation of protein deposits in the cornea, potentially affecting vision.

Macular Corneal Dystrophy: Macular Corneal Dystrophy is a rare genetic condition that impacts the cornea’s transparency and can lead to vision problems.

Corneal Neuropathy: Corneal Neuropathy encompasses various conditions where nerve damage affects the cornea. Neurotrophic keratopathy is one example of such a condition, which can result in corneal sensitivity and vision difficulties.

Anterior Basement Membrane Dystrophy: A condition where the basement membrane of the corneal epithelium is irregular.

Unilateral Retinoblastoma: In this type, only one eye is affected by the tumor. Unilateral retinoblastoma is more common and typically has a better prognosis compared to the bilateral form.

Bilateral Retinoblastoma: In bilateral retinoblastoma, both eyes are affected by tumors. This form of the disease often presents at an earlier age and is generally associated with a higher risk of vision loss and other complications.

Leber Congenital Amaurosis (LCA): LCA is a rare genetic disorder that affects the retina and usually presents in infancy. It can cause severe visual impairment or blindness from birth.

Retinitis Pigmentosa (RP): RP is a group of inherited disorders that cause a gradual loss of vision due to the degeneration of the retina’s photoreceptor cells. It can lead to blindness over time.

Stargardt Disease: Stargardt disease is a genetic disorder that leads to central vision loss, usually beginning in childhood or adolescence. In severe cases, it can result in legal blindness.

Congenital Stationary Night Blindness (CSNB): CSNB is a genetic disorder that affects night vision and may cause legal blindness in severe cases.

Achromatopsia: Achromatopsia is a rare genetic condition characterized by total color blindness and severe light sensitivity, which can result in significant visual impairment.

Bardet-Biedl Syndrome: This is a complex genetic disorder that can affect multiple organ systems, including vision. It may lead to progressive vision loss and, in some cases, blindness.

Retinoblastoma: Retinoblastoma is a rare childhood eye cancer that arises in the retina, which is the light-sensitive tissue at the back of the eye. It is often associated with specific genetic mutations, and individuals with retinoblastoma are at an increased risk of developing certain other cancers. There are two forms of retinoblastoma: hereditary and non-hereditary.

Hereditary (Familial) Retinoblastoma: In hereditary retinoblastoma, tumors often develop in both eyes. This is a hallmark feature of hereditary cases. Hereditary retinoblastoma is associated with a mutation in the RB1 gene, which is a tumor suppressor gene. This mutation can be passed down from one generation to the next.

Non-Hereditary (Sporadic) Retinoblastoma: In non-hereditary retinoblastoma, tumors typically develop in only one eye. There is typically no family history of retinoblastoma or known genetic mutation in sporadic cases.

Rare Types of Cancer

Rare Fungal Diseases

Rare Heart Diseases

Hereditary Cancer Syndromes

Rare Immune Disorders

Rare Urinary Diseases

Rare Kidney Diseases

Rare Lung Diseases

Rare Diseases of Metabolism

Rare Mouth Diseases

Rare Neurological Disorders

Neuromuscular Disorders

Rare Newborn Diseases

Rare Nutritional Disorders

Rare Parasitic Diseases

Rare Skin Diseases

Rare Viral Diseases

Rare Musculoskeletal Diseases

Rare Female Reproductive System Diseases

Rare Male Reproductive System Diseases

Rare Birth Defects

There are several commonly known birth defects, for instance, include cleft lip/ palate or heart defects, while Rare Birth Defects too are too many.

Some Rare Birth Defects include unheard of names such as Congenital hydrocephalus, Craniosynostosis, Dandy Walker malformation, Ehlers Danlos syndrome, Epidermolysis bullosa, Gorham’s disease, Hashimoto’s syndrome among others.

Even if diagnosed at the pre-natal stage, many expecting parents do not have the financial wherewithal to get their newborns treated for congenital birth defects.

The following are some of the Rare Birth Defects. However, this list is not exhaustive. There may be several other rare birth disorders that may be missing from this list. Please alert us at indiaord@gmail.com if we have missed any disease

22q11.2 deletion syndrome: The 22q11.2 deletion syndrome is also known as DiGeorge Syndrome and Velocardiofacial syndrome. In this condition, a small part of chromosome 22 is missing.

The deleted chromosome may leave its heredity impact on the members of the same family with common symptoms such as heart problems, cleft palate, low calcium in blood and compromised immune system.

Ocular Albinism: In Ocular Albinism, pigment production in the eyes is affected. These features can present during birth. It has various sub-types. They are: Ocular albinism type I (OA1), X-linked ocular albinism or X-linked congenital nystagmus 6 (NYS6). This rare disorder is inherited.

Oculocutaneous albinism: In Oculocutaneous albinism, production of melanin is affected in eyes, hair and skin. This is an inherited disease. In ocular albinism, only eyes are affected and not skin.

Anencephaly: This is a fatal rare disease that affects unborn children during pregnancy. Known as a type of neural tube defect, the baby’s brain and spine forms as a flat disk of cells. The new born with this condition may not survive for long. Fetus with this condition often end up with termination of pregnancy.

Arnold-Chiari Malformation (Chiari Malformation): This rare condition affects brain. It occurs when skull is malformed.

Chiari Malformation come in three types: Chiari malformation type 1, Chiari malformation type 2 and type 3. The latter two types manifest at birth, while the first one develops at late childhood stage.

CHARGE syndrome: CHARGE syndrome is a group of disorders. It stands for coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities.

Congenital Adrenal Hyperplasia: Congenital Adrenal Hyperplasia (CAH) is a rare inherited autosomal recessive disorder that may result in low levels of cortisol and high levels of male hormones, leading to development of male characteristics in females.

Congenital Diaphragmatic Hernia (CDH): Congenital Diaphragmatic Hernia (CDH) is a rare condition noticed at the time of birth that is characterized by abnormal development of the diaphragm.

Congenital Hydrocephalus: Congenital Hydrocephalus results in excess cerebrospinal fluid (CSF) in the brain at birth that can lead to brain damage of the baby.

Craniosynostosis: Craniosynostosis is a rare birth defect that can misshapen the skull of the baby even before it is fully developed.

Dandy Walker Malformation: In Dandy-Walker Malformation, the cerebellum of the brain is underdeveloped or develops abnormally. This is a rare condition.

Ehlers Danlos syndrome: Ehlers-Danlos syndrome is a rare disorder that affects the skin, joints and blood vessels. Sometimes, blood vessels can get ruptured in this condition.

Epidermolysis Bullosa: Epidermolysis Bullosa (EB) is considered as a rare medical condition. It is an inherited skin disease where the skin remains fragile and leads to formation of blisters due to small injuries.

Gorham’s disease: Gorham’s disease is regarded as a rare condition where bones are affects. It leads to a condition called osteolysis, where bone loss occurs. The symptoms include pain, swelling and increased bone fracture chances.

Hashimoto’s Syndrome (Autoimmune Thyroiditis): In Hashimoto’s Syndrome, the thyroid gland does not produce enough quantity of thyroid hormone. This is a rare autoimmune disorder (also known as Autoimmune Thyroiditis) where the body’s own anti-bodies attack the healthy cells in thyroid. The symptoms include goitre, tiredness, weight gain and muscle weakness.

Hydrops Fetalis (immune and nonimmune): In Hydrops Fetalis, there is unusually high amount of fluid build-up in the fetus of a newborn. It is considered to be of two types: immune and nonimmune.

Klippel-Feil Syndrome: Klippel-Feil Syndrome is a congenital bone disorder that is present during birth. In this condition, two or more spinal bones are fused together in the neck.

Congenital Muscular Dystrophy: In Congenital Muscular Dystrophy (CMD), the condition becomes apparent at birth. This condition affects voluntary muscles of our body.

Osteogenesis Imperfecta: Osteogenesis Imperfecta (OI) is a rare bone disorder present at birth. In this condition, the bones become brittle. Children born with Osteogenesis imperfecta (OI) have very soft bones.

Smith Lemli Opitz Syndrome: Smith-Lemli-Opitz Syndrome (SLOS) is a rare congenital genetic condition. It is an autosomal recessive disorder attributed to changes in DHCR7 gene.

Congenital Distal Spinal Muscular Atrophy: In Congenital Distal Spinal Muscular Atrophy, there is muscle wasting (atrophy) especially of distal muscles in legs and hands. This condition may occur at birth.

Tuberous sclerosis: Tuberous sclerosis is also known as Bourneville Disease, Phakomatosis or Neurocutaneous Disorder alternatively. It is a rare genetic condition that surfaces soon after birth. In this condition, non-cancerous tumours are formed on multiple organ systems of the body such as skin, brain, eyes, heart, kidneys and lungs.

Turner Syndrome: Turner Syndrome is an extremely rare chromosomal disorder that affects females, who are born only with one X chromosome instead of two set of chromosomes. This condition results in infertility and heart defects.

X-Linked Lymphoproliferative Syndrome: X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood cells that affects mostly males. It is also known as Duncan disease after 6 of 18 males in one Duncan family died of lymphoproliferative disease.

There are two types of XLP – XLP 1 and XLP2.

Carpenter Syndrome: Carpenter Syndrome is an extremely rare congenital (present at birth) disorder that causes abnormal growth of a baby’s skull, fingers, and toes.

EEC syndrome: EEC Syndrome stands for Ectrodactyly Ectodermal dysplasia Cleft lip/palate syndrome, which is a rare genetic congenital disease that results in birth defects such as missing or irregular fingers or toes or split hand or foot. The defect is often attributed to a gene known as TP63.

Cloverleaf Deformity: In Cloverleaf Deformity, it results in an extremely rare skull deformity that happens when several joints are joined together in the baby’s skull bones. This leads to bulging of either side of the skulls, resembling cloverleaf shape.

Clubbed Foot: In Clubbed Foot condition, the foot is short and broad in shape and appearance. This is a congenital condition.

Craniofacial Disorder: A Craniofacial disorder can result from birth defect. It happens due to malformations of the face and skull.

Pediatric Craniosynostosis: In Pediatric Craniosynostosis, the joints between the bones of new born baby fuse together prematurely, leading to misshaped appearance. This birth defect occurs even before the brain is fully formed.

Crouzon Syndrome: Crouzon Syndrome is a rare genetic disorder that can be diagnosed at birth. In this condition, there is premature joining of fibrous joints (sutures) between certain bones of the skull.

Deformational Plagiocephaly: In Deformational Plagiocephaly, otherwise known as Flat Head Syndrome, the baby’s head becomes flat shaped.

Diaphragmatic Hernia: A Diaphragmatic Hernia is a birth defect. In this condition, an abnormality starts forming before birth in the foetus.

Marfan Syndrome: Marfan Syndrome is attributed to an abnormal gene called FBN1. It is a disorder that involves the body’s connective tissue.

Microtia: In Microtia, which is a rare condition, a child is born with deformed or malformed ear or ears.

Mosaic Down Syndrome: Mosaic Down Syndrome is a rare form of Down Syndrome. It is known to occur in 2% of Down Syndrome patient. In Mosaic Down Syndrome, some cells have a normal pair of chromosome 21, while other cells contain three copies.

Multisuture Synostosis: In Multisuture Synostosis, there is a combination of several craniosynostosis where a number of joints in a baby’s skull gets fused prematurely.

Omphalocele: Omphalocele is a rare medical condition and a birth defect where the baby’s intestines, liver, or other organs protrude outside through the belly button.

Pfeiffer Syndrome: In Pfeiffer syndrome, which is a rare birth defect, the shape of the baby’s skull and face gets affected. In this condition, there is premature fusion of certain skull bones (craniosynostosis).

Phenylketonuria (PKU): In Phenylketonuria, which is known to affect 1 in about 15,000 live births, the baby is born without the ability to break down an amino acid called phenylalanine. This is attributed to deficiency of the enzyme phenylalanine hydroxylase.

Congenital Plagiocephaly: In Congenital Plagiocephaly condition, the joints in an infant’s skull get fused prematurely. This condition is caused by craniosynostosis.

Prader Willi Syndrome: In Prader-Willi Syndrome, a baby inherits both copies of a section of chromosome. This is a genetic disorder that can cause obesity, intellectual disability and affect height.

Saethre-Chotzen Syndrome: In Saethre-Chotzen Syndrome, which is a genetic condition, there is fusion of skull bones of an infant. This makes head and face appear misshapen. This is a type of bone rare disorder.

Tracheoesophageal Fistula and Esophageal Atresia: These two conditions are inter-related rare disorders that may occur during birth. In Esophageal Atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach.

While in Tracheoesophageal Fistula (TEF), there is an abnormal connection between esophagus and the trachea, resulting in food getting inhaled into the lungs of the baby.

Treacher Collins Syndrome: Treacher Collins Syndrome (TCS) is a rare condition that may occur during birth. In this condition, babies may be born with deformed ears, eyelids, cheekbones, and jawbones. This condition is alternatively known as Treacher Collins-Franceschetti Syndrome, Franceschetti-Zwahlen-Klein Syndrome, and Zygoauromandibular Dysplasia.

Hypogammaglobulinemia: In Hypogammaglobulinemia, the immune system gets affected as it does not produce enough gamma globulins in the blood.

There are three different groups of Hypogammaglobulinemia: congenital sex-linked agammaglobulinemia, acquired hypogammaglobulinemia and congenital hypogammaglobulinemia.

Anophthalmia & Microphthalmia: Anophthalmia and Microphthalmia are both rare birth defects and congenital abnormality in a baby’s eyes. While Anophthalmia is a birth defect where a baby is born without one or both eyes, Microphthalmia is a birth defect in which one or both eyes does not develop fully.

Cardiomegaly: In Cardiomegaly condition, the heart gets enlarged. Though seen primarily in adults, it sometimes is seen in newborn.

Congenital Mitral Stenosis: Congenital Mitral Stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle.

Hypoplastic Right Heart Syndrome: There are two types of Hypoplastic Heart Syndrome: Hypoplastic Right Heart Syndrome (HRHS) and Hypoplastic Left Heart Syndrome (HLHS). This is a rare congenital defect featuring underdeveloped heart, which needs to be diagnosed at the prenatal level.

Peripheral Pulmonary Stenosis: Peripheral Pulmonary Stenosis is a type of rare congenital anomaly that affects the arteries at single or multiple locations. Its symptoms may include dyspnea, chest pain and pulmonary hypertension.

Epispadias: Epispadias is a rare birth defect. In this condition, the urine exits from a different location as the urethra does not develop fully. The pubic bone remains undeveloped. It is estimated to occur in about 1 in over 1 lakh live births and common in males than in females.

This condition is known to be triggered by genetic and environmental factors, and it can often be diagnosed during infancy or early childhood. Symptoms include urination difficulty & urinary incontinence.

Teratomas: Teratoma is a congenital birth defect, often found in the form of non-cancerous tumours formed by different types of tissues. They can develop in various parts of the body like chest, brain, ovaries, testes and chest. These tumours are often benign, but some can become cancerous. Treatment involves surgical removal, chemotherapy or radiation therapy.

Sacrococcygeal Teratoma (SCT): Sacrococcygeal Teratoma (SCT) is a rare form of birth defect that affects the tailbone (coccyx). It develops at the base of the spine in the sacrococcygeal area near the tailbone. They are found in both males and females. Though they are mostly benign, some forms can be malignant. Diagnosis can be made during prenatal tests or soon after birth. Treatment can be in the form of surgical removal, chemotherapy or radiation.

Macrostomia: Macrostomia is a rare birth defect that can occur in 1 out of 300000 live births. In this condition, facial cleft is formed that can be a unilateral or bilateral anomaly.

Ablepharon-macrostomia syndrome (AMS): This is also a rare genetic birth defect where in addition to facial cleft there is absence or underdeveloped eyelids (ablepharon or microblepharon).

Cloacal Anomaly: This birth defect is seen rarely in females. In Cloacal Deformity, the rectum, vagina and urologic structures are combined instead of being separately formed. It is seen in 1 in 25000 cases.

Pseudotumor Cerebri: This is a rare birth defect which leads to narrowing of blood vessels in the brain, affecting fluid movement. It results in Pseudotumor Cerebri.

Caudal Regression: In Caudal Regression Syndrome, the lower half of the body including spine, do not fully develop before birth. The incidence of this rare congenital disorder is estimated at 1 in 1 lakh newborns. This rare birth disorder is also known as Sacral Agenesis.

Klippel Feil syndrome (KFS): Klippel Feil syndrome is a rare birth defect where there is abnormal fusion of two vertebrae in the neck. This condition restricts mobility of the upper spine. It can occur in 1 in 5000 people.

CMV Virus: Cytomegalovirus (CMV) is a virus that is known to remain dormant most often after one gets exposed to it. However, it may target those with lower immunity. Unborn babies remain at risk of infection and it may lead to several types of birth defects such as microcephaly (small head size) and hepatomegaly (enlarged liver) besides other associated common health ailments.

Biliary Atresia: In Biliary Atresia, the bile ducts in infants are blocked. They are tubes that connects liver with other organs but in infants with bilary atresia, the biles builds up in the liver leading to liver damage. This may be followed by liver cirrhosis.

Fetal Lymphangioma: Fetal Lymphangioma is also known as cystic hygroma. It is a birth defect that appears as a sac in the neck/head region of an infant. The disease is attributed to failure of the lymphatic drainage system.

Achondroplastic Dwarfism: Achondroplasia is the most common form of skeletal dysplasia, occurring in about one in every 40,000 births. Achondroplasia impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.

Chondromalacia Patella: Condition where the cartilage under the kneecap softens, causing pain and discomfort.

Klippel-Trenaunay-Weber: Rare congenital condition involving blood vessel abnormalities, limb overgrowth, and pigmentation changes.

Addison’s: Chronic adrenal insufficiency, resulting in reduced production of hormones.

Hyperpigmentation of Gums: Darkening of the gums, often caused by certain medications or medical conditions.

Treacher Collins: Congenital condition affecting the development of facial bones and structures, leading to facial abnormalities.

Hemimegalencephaly: It is a rare neurological condition where one-half of the brain is larger than the other, leading to seizures and developmental delays.

Anorchia (Absence Of Testes): It is a congenital condition where one or both testes are missing.

Cavernous Hemangioma: Vascular malformation characterized by abnormal growth of blood vessels.

Tar: Rare congenital condition involving the absence of one or more limbs.

Holt-Oram: Inherited condition affecting the development of the upper limbs and heart.

Sudden Infant Death Syndrome (SIDS): Sudden and unexplained death of an infant during sleep.

Hydranencephaly: Rare birth defect where the cerebral hemispheres are absent, replaced by fluid-filled sacs.

Macroglossia: Macroglossia can be present as a birth defect or it can develop later in life. In some cases, it is a congenital condition where a baby is born with an abnormally large tongue. In this condition, abnormally large tongue, which can affect speech, swallowing, and breathing.

Polysplenia: Polysplenia is considered a birth defect. It is a condition where a person has multiple small spleens or abnormal development of the spleen. Polysplenia is usually present at birth and is associated with other abnormalities in the organs and structures of the body, such as the heart, liver, and gastrointestinal tract

Cloacal Exstrophy: Cloacal Exstrophy is a birth defect. It is a rare congenital malformation that affects the abdominal and pelvic organs. In this condition, the abdominal wall does not properly form, and the bladder, intestines, and sometimes the reproductive organs are exposed outside the body.

Cystic Fibrosis: Cystic Fibrosis is considered a birth defect. It is an inherited genetic disorder that affects various organs, primarily the lungs, pancreas, and digestive system. People with Cystic Fibrosis have a defective gene that causes the production of thick and sticky mucus in the body.

Treacher Collins: Treacher Collins syndrome is a birth defect. It is a genetic disorder that affects the development of facial bones and tissues. Individuals with Treacher Collins syndrome may have underdeveloped or absent cheekbones, jaw deformities, cleft palate, and other facial abnormalities.

Stickler: Stickler syndrome is a genetic disorder affecting connective tissues. It can cause facial abnormalities, hearing loss, and joint problems. It is considered a birth defect.

Hemimegalencephaly: Hemimegalencephaly is considered a birth defect. It is a rare neurological condition characterized by abnormal brain development, specifically involving one half (hemisphere) of the brain being larger than the other. It is present from birth and results in an enlarged and dysplastic hemisphere, leading to various neurological problems such as seizures, developmental delays, and intellectual disabilities.

Leukodystrophy: Leukodystrophy refers to a group of genetic disorders affecting the white matter of the brain. It is a birth defect.

Myoblastoma: Myoblastoma is not a birth defect but a term that is more commonly associated with a type of tumor called embryonal rhabdomyosarcoma.

Albinism: Albinism is a genetic condition characterized by the absence or reduction of melanin in the skin, hair, and eyes. It is considered a birth defect.

Ectodermal Dysplasia: Ectodermal dysplasia is a group of genetic disorders affecting the development of the skin, hair, teeth, and sweat glands. It is considered a birth defect.

Porencephaly: Porencephaly is a rare brain disorder characterized by fluid-filled cavities in the brain. It is considered a birth defect.

Absent Spleen: Absent spleen, also known as asplenia, is a condition where the spleen is missing or underdeveloped. It is considered a birth defect.

Anorchia (Absence Of Testes): Anorchia is a condition where one or both testes are missing. It is considered a birth defect.

Cavernous Hemangioma: Cavernous hemangioma is a type of vascular birthmark caused by abnormal blood vessels. It is considered a birth defect.

Fragile X: Fragile X syndrome is a genetic disorder that causes intellectual and developmental disabilities. It is considered a birth defect.

Holt-Oram: Holt-Oram syndrome is a genetic disorder affecting the heart and upper limbs. It is considered a birth defect.

Pervasive Developmental Disorder (PDD): PDD is a neurodevelopmental disorder characterized by delays and impairments in social interaction, communication, and behavior. It is considered a birth defect as it affects a child’s development from an early age.

Exophthalmos: Exophthalmos refers to the protrusion or bulging of one or both eyeballs. While it can be associated with certain medical conditions, it is not typically considered a birth defect on its own.

Angelman Syndrome: Angelman Syndrome is a genetic disorder that affects the nervous system and causes developmental delays, intellectual disabilities, and unique behaviors. It is considered a birth defect as it is present from birth and results from a genetic abnormality.

Fetal Hydantoin Syndrome: Fetal Hydantoin Syndrome is a collection of birth defects that can occur in babies whose mothers took hydantoin medications during pregnancy. It is considered a birth defect as it is directly related to exposure to the medication in the womb.

Cri Du Chat Syndrome: Cri Du Chat Syndrome, also known as 5p- Syndrome, is a genetic disorder caused by the deletion of a portion of chromosome 5. It leads to intellectual disabilities and characteristic features. It is considered a birth defect as it results from a genetic abnormality present from birth.

Aicardi Syndrome: Aicardi Syndrome is a rare genetic disorder that primarily affects females and is characterized by the absence or underdevelopment of the corpus callosum, seizures, and eye abnormalities. It is considered a birth defect as it results from a genetic abnormality present from birth.

Alagille Syndrome: Alagille Syndrome is a genetic disorder that primarily affects the liver and other organs. It is characterized by liver abnormalities, heart defects, and distinctive facial features. It is considered a birth defect as it is present from birth and results from a genetic abnormality.

Horner Syndrome: Horner Syndrome is a condition characterized by a combination of symptoms such as drooping eyelid, pupil constriction, and decreased sweating on one side of the face. It can be present from birth or acquired later in life.

Kabuki Syndrome: Kabuki Syndrome is a rare genetic disorder that affects multiple organ systems and is characterized by distinct facial features, developmental delays, and intellectual disabilities. It is considered a birth defect as it results from a genetic abnormality present from birth.

Larsen Syndrome: Larsen Syndrome is a rare genetic disorder characterized by multiple joint dislocations, distinctive facial features, and other skeletal abnormalities. It is considered a birth defect as it is present from birth and results from a genetic abnormality.

Rett Syndrome: Rett Syndrome is a genetic disorder that primarily affects females and leads to severe cognitive and physical impairments. It is considered a birth defect as it is caused by a genetic mutation present from birth.

Sturge-Weber Syndrome: Sturge-Weber Syndrome is a rare neurological disorder characterized by a facial birthmark, abnormal blood vessels in the brain, and eye abnormalities. It is considered a birth defect as it is present from birth and results from a developmental abnormality.

Nail-Patella Syndrome: Nail-Patella Syndrome is a genetic disorder characterized by abnormalities of the nails, kneecaps, and skeletal system. It is considered a birth defect as it is caused by a genetic mutation present from birth.

Fetal Valproate Syndrome: Fetal Valproate Syndrome refers to a range of birth defects that can occur in babies exposed to valproate medications during pregnancy. It is considered a birth defect as it is directly related to exposure to the medication in the womb.

Fryns Syndrome: Fryns Syndrome is a rare genetic disorder characterized by multiple abnormalities, including respiratory, craniofacial, and cardiovascular defects. It is considered a birth defect as it is present from birth and results from a genetic abnormality.

Miller-Dieker Syndrome: Miller-Dieker Syndrome is a genetic disorder caused by a deletion on chromosome 17. It is characterized by developmental delays, intellectual disabilities, and distinctive facial features. It is considered a birth defect as it results from a genetic abnormality present from birth.

Orofacialdigital Syndrome: Orofacialdigital Syndrome refers to a group of genetic disorders that affect the development of the face, oral cavity, and digits. It is considered a birth defect as it is present from birth and results from genetic abnormalities.

Smith-Lemli-Opitz Syndrome: Smith-Lemli-Opitz Syndrome is a genetic disorder that affects cholesterol metabolism and leads to developmental delays, intellectual disabilities, and physical abnormalities. It is considered a birth defect as it is caused by a genetic mutation present from birth.

Walker-Warburg Syndrome: Walker-Warburg Syndrome is a rare genetic disorder characterized by brain abnormalities, eye defects, muscle weakness, and other abnormalities. It is considered a birth defect as it is present from birth and results from a genetic abnormality.

Wilms Tumor: Wilms Tumor is a type of kidney cancer that primarily affects children. While it is a medical condition, it is not considered a birth defect as it is an acquired condition rather than an inherent developmental abnormality.

Facial Nerve Paralysis: Facial Nerve Paralysis refers to the weakness or loss of movement in the muscles of the face due to damage or dysfunction of the facial nerve. It is not typically considered a birth defect as it can have various causes and may occur later in life.

Coarctation of Aorta: Coarctation of Aorta is a congenital heart defect characterized by narrowing of the aorta, the main artery that carries blood from the heart. It is considered a birth defect as it is present from birth and affects the cardiovascular system.

Rectal/ Intestinal Atresia: Rectal and/or Intestinal Atresia refers to the blockage or absence of a portion of the rectum or intestine. It is considered a birth defect as it is present from birth and affects the gastrointestinal system.

Pierre Robin: Pierre Robin Sequence is a condition characterized by a small lower jaw, cleft palate, and a tendency for the tongue to fall back in the throat, leading to breathing difficulties. It is considered a birth defect as it is present from birth and affects the craniofacial development.

Single Umbilical Artery: Single Umbilical Artery refers to the presence of only one artery in the umbilical cord instead of the usual two. It is considered a birth defect as it is present from birth and can be associated with other abnormalities.

Pyloric Stenosis: Pyloric Stenosis is a condition characterized by the narrowing of the opening between the stomach and the small intestine. It is considered a birth defect as it is present from birth and affects the gastrointestinal system.

Twisted Lower Limb: “Twisted Lower Limb” is a general term and does not specify a particular birth defect. It can refer to various conditions affecting the lower limb, some of which may be present from birth and considered birth defects. However, a specific diagnosis is needed to determine the nature of the defect.

Pigeon Chest: Pigeon Chest, also known as Pectus Carinatum, is a deformity of the chest characterized by an outward protrusion of the breastbone. It is considered a birth defect as it is present from birth and affects the chest wall development.

Aphasia: Aphasia refers to a language disorder that impairs a person’s ability to understand or express language. It is not specifically a birth defect, but rather a condition that can result from various factors, including brain injury or neurological conditions.

Coloboma: Coloboma is a birth defect characterized by a gap or hole in certain structures of the eye, such as the iris, retina, or optic nerve. It is considered a birth defect as it is present from birth and affects the eye development.

Cortical Blindness: Cortical Blindness is a visual impairment caused by damage to the occipital cortex of the brain. It can be present from birth if the brain damage occurs prenatally or acquired later in life. While it can be associated with birth defects, the term itself does not specify a congenital condition.

Encephalocele: Encephalocele is a neural tube defect characterized by the protrusion of brain tissue through an opening in the skull. It is considered a birth defect as it is present from birth and affects the development of the brain and skull.

Transposition Great Arteries: Transposition of the Great Arteries is a congenital heart defect where the positions of the two main arteries leaving the heart are switched. It is considered a birth defect as it is present from birth and affects the cardiovascular system.

Optic Nerve Atrophy: Optic Nerve Atrophy refers to the degeneration or damage of the optic nerve, which can lead to vision loss. It can be present from birth if it is caused by congenital conditions or acquired later in life due to various factors.

Thin Corpus Callosum: Thin corpus callosum refers to a condition where the bundle of nerve fibers connecting the two hemispheres of the brain, known as the corpus callosum, is abnormally thin. It is considered a birth defect.

Polycystic Kidney: Polycystic kidney is a genetic disorder characterized by the growth of multiple cysts in the kidneys. It is considered a birth defect.

Macrocephaly: Macrocephaly refers to an abnormally large head size. It can be a birth defect, but it can also occur as a result of other conditions or genetic factors.

Down Syndrome: Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is considered a birth defect.

Bradycardia: Bradycardia refers to an abnormally slow heart rate. It can be present at birth or develop later in life due to various factors.

Horseshoe Kidney: Horseshoe kidney is a congenital condition where the two kidneys are fused together at the lower ends. It is considered a birth defect.

Holoprosencephaly: Holoprosencephaly is a rare brain malformation where the forebrain fails to divide properly during early development. It is considered a birth defect.

Spondylolisthesis: Spondylolisthesis is a condition where one vertebra slips forward over the vertebra below it. It can be present at birth or develop later in life.

Ptosis: Ptosis refers to drooping of the upper eyelid. It can be a birth defect or develop later in life due to various factors.

Mitral Valve Regurgitation: Mitral valve regurgitation is a condition where the mitral valve of the heart does not close properly, leading to backward flow of blood. It can be present at birth or develop later in life.

Dermoid Cysts: Dermoid cysts are sac-like growths that contain tissues typically found in the skin. They are considered a birth defect.

Bladder Exstrophy: Bladder exstrophy is a rare birth defect where the bladder is exposed outside the body. It requires surgical correction.

Hirschsprung’s Disease: Hirschsprung’s disease is a congenital condition where there is a lack of nerve cells in the muscles of the colon, leading to difficulty in passing stool. It is considered a birth defect.

Microphthalmia: Microphthalmia is a condition where one or both eyes are abnormally small. It can be a birth defect, but it can also occur due to other factors.

Exotropia: Exotropia is a type of strabismus where the eyes turn outward. It is not typically classified as a birth defect.

Splenomegaly (Enlarged Spleen): Splenomegaly refers to an enlarged spleen. It can be a sign of an underlying health condition and may or may not be present at birth.

Trisomy: Trisomy refers to the presence of an additional copy of a chromosome, such as Trisomy 21 (Down syndrome). It is considered a birth defect.

Sacral Agenesis: Sacral agenesis is a rare birth defect where the sacrum, the triangular bone at the base of the spine, is underdeveloped or absent. It is considered a birth defect.

Hypertelorism: Hypertelorism is a condition where the distance between the eyes is increased. It can be a birth defect, but it can also occur as a result of other conditions or genetic factors.

Hydrocele: Hydrocele is a fluid-filled sac around the testicle. It can be present at birth or develop later in life.

Syringomyelia: Syringomyelia is a condition where a fluid-filled cyst forms within the spinal cord. It can be a birth defect or develop later in life due to various factors.

Omphalocele: Omphalocele is a birth defect where some abdominal organs protrude through the belly button. It requires surgical correction.

Cystic Hygroma: Cystic hygroma is a fluid-filled sac that forms during fetal development, typically in the head and neck area. It is considered a birth defect.

Short Bowel: Short bowel refers to a condition where a significant portion of the small intestine is missing or non-functional. It can be a birth defect or result from surgical removal of a portion of the intestine.

Intrauterine Stroke: Intrauterine stroke refers to a stroke that occurs while the baby is still in the womb. It is considered a birth defect.

Arthrogryposis: Arthrogryposis is a condition characterized by joint contractures and limited range of motion in multiple joints. It is considered a birth defect.

Absent Gallbladder: Absent gallbladder refers to the absence or underdevelopment of the gallbladder. It can be a birth defect or occur as a result of other conditions or surgical removal.

Ehlers-Danlos: Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders that affect the structure and function of collagen in the body. It is considered a birth defect.

Clinodactyly: Clinodactyly is a condition where there is a sideways curvature of one or more fingers. It can be a birth defect, but it can also occur as a variation within the normal range.

Septo-Optic Dysplasia: Septo-optic dysplasia is a congenital condition characterized by underdevelopment of the optic nerve, absence of the septum pellucidum (a thin membrane in the brain), and hormone deficiencies. It is considered a birth defect.

Pulmonary Atresia/Hypoplasia: Pulmonary atresia/hypoplasia refers to a condition where the pulmonary valve is either absent or underdeveloped, leading to restricted blood flow to the lungs. It is a birth defect and can vary in severity. It is a relatively rare condition.

Cerebellar Hypoplasia: Cerebellar hypoplasia is a condition where the cerebellum is underdeveloped or smaller than normal. It can be a birth defect, but it can also occur due to various genetic or environmental factors. The prevalence and rarity of this condition depend on the underlying cause.

Cardiomyopathy: Cardiomyopathy is a disease that affects the heart muscle, leading to impaired cardiac function. It can be a birth defect when it is caused by genetic mutations. The prevalence and rarity of cardiomyopathy depend on the specific type and underlying causes.

Double Outlet Right Ventricle: Double outlet right ventricle is a congenital heart defect where both the aorta and the pulmonary artery arise from the right ventricle. It is a birth defect and is relatively rare.

Overgrowth Of Lower Limb: Overgrowth of the lower limb refers to excessive growth in one or both legs. It can be a birth defect, but it can also occur due to other factors such as genetic mutations or certain medical conditions. The prevalence and rarity of this condition can vary depending on the underlying cause.

Choanal Atresia: Choanal atresia is a condition where the nasal passages are blocked, typically by abnormal bony or membranous tissue. It is considered a birth defect and can affect one or both sides of the nose. The condition is relatively rare.

Ambiguous Genitalia: Ambiguous genitalia refers to the condition where the external genitals of a newborn cannot be easily classified as male or female. It is a birth defect and is relatively rare.

Schizencephaly: Schizencephaly is a rare congenital brain malformation characterized by abnormal clefts or gaps in the cerebral hemispheres. It is considered a birth defect and is classified as a rare condition due to its low prevalence.

Neurofibromatosis: Neurofibromatosis is a group of genetic disorders that cause tumors to form on nerve tissue. It is a birth defect caused by genetic mutations. Neurofibromatosis type 1 (NF1) is relatively common, while neurofibromatosis type 2 (NF2) is rarer.

Potter: Potter syndrome refers to a group of characteristics that occur in babies with a lack of amniotic fluid during pregnancy. It is a birth defect and is relatively rare.

Preauricular Pits: Small indentations or openings near the front of the ears that are present at birth.

Dandy Walker Malformation: A rare brain abnormality characterized by an enlarged fourth ventricle and cyst formation within the cerebellum, leading to issues with movement and coordination.

Cerebellar Hypoplasia: A condition where the cerebellum, a part of the brain that controls movement and coordination, is underdeveloped, potentially leading to motor deficits.

Choanal Atresia: An uncommon congenital defect where the back of the nasal passage is blocked by abnormal tissue, potentially causing breathing difficulties.

Ambiguous Genitalia: Congenital condition where the external genitalia do not have typical male or female appearance.

Tricuspid Valve Stenosis/Atresia: A heart defect involving the tricuspid valve, which can be narrowed (stenosis) or absent (atresia), affecting blood flow between the heart’s chambers.

Pulmonary Artery Anomaly: Abnormalities in the structure or positioning of the pulmonary arteries, which can disrupt proper blood flow to the lungs.

Dextrocardia: A condition where the heart is located on the right side of the chest, instead of the left.

Bicornuate Uterus: A uterine abnormality characterized by a heart-shaped or two-horned uterus, which may impact fertility and pregnancy.

Absence Of Septum Pellucidum: Congenital absence or underdevelopment of the septum pellucidum, a membrane between brain structures.

Cardiomyopathy: A group of diseases that affect the heart muscle, leading to weakened heart function.

Lipomyelomeningocele: A type of spina bifida where fatty tissue and the spinal cord are involved, leading to potential neurological complications.

Tourette Syndrome: A neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics.

Lissencephaly: A rare brain malformation characterized by smooth brain surfaces and severe developmental delays.

Craniosynostosis: A condition where the bones of a baby’s skull fuse too early, leading to head shape abnormalities.

Asperger: A form of autism spectrum disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.

Goldenhar (Hemifacial Microsomia): A rare craniofacial disorder affecting one side of the face, leading to facial asymmetry and potential ear and jaw abnormalities.

Anencephaly: A severe birth defect where a major part of the baby’s brain and skull do not form properly.

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