Absence of fingerprints-congenital milia syndrome is a rare condition that is usually seen from birth. It is marked by the lack of fingerprints on the...

Absence of innominate vein is a rare congenital condition in which the left brachiocephalic (innominate) vein is missing. This leads to an unusual pat...

Absence of the pulmonary artery is a rare vascular condition where one of the pulmonary arteries, either right or left, is missing from birth. The aff...

Absent radius-anogenital anomalies syndrome is a rare genetic condition that affects the development of the limbs and the formation of the anogenital...

Absent tibia-polydactyly-arachnoid cyst syndrome is a very rare condition that affects the development of bones and certain structures in the body. Pe...

Acalvaria is a rare malformation in which the scalp and the flat bones of the top part of the skull are missing over a variable area. In many cases, p...

Acanthamoeba keratitis is an infection of the cornea caused by the free-living amoeba Acanthamoeba, most often linked to contact lens wear, particular...

Acanthokeratolytic verrucous nevus, also known as verrucous nevus acanthokeratolytic, is a rare skin condition. Information about the detailed charact...

Acantholytic variant squamous cell breast carcinoma is a type of cancer that starts in the breast tissue. It is defined by the formation of squamous c...

This syndrome is recognized by the presence of acanthosis nigricans (dark, thickened patches of skin), insulin resistance (a condition where the body...

Acatalasia is a rare congenital disorder that results from a deficiency in erythrocyte catalase, the enzyme responsible for breaking down hydrogen per...

Accessory pancreas is a rare condition in which small amounts of pancreatic tissue are found in areas other than the usual location of the pancreas. T...

Accessory tricuspid valve tissue is a rare heart condition that people are born with. It involves extra tissue on the tricuspid valve, one of the hear...

ACD-related long telomere syndrome is a telomere biology disorder characterized by abnormally long telomeres and has been linked to familial melanoma....

ACD-related short telomere syndrome is a spectrum of disorders characterized by impaired telomere maintenance, which results in abnormally short telom...

ACD-related telomere biology disorder, also known as ACD-related telomeropathy, represents a complex set of conditions characterized by disruption of...

Aceruloplasminemia is an adult-onset condition where iron builds up in the brain. This buildup causes various problems, including anemia, retinal dege...

Acetazolamide-responsive myotonia is a rare form of potassium-aggravated myotonia (PAM) where irregular muscle contractions cause stiffness and discom...

Achalasia, familial esophageal is a rare condition that occurs as a result of an inherited genomic modification. This condition falls under the broade...

Achalasia-microcephaly syndrome is an extremely rare genetic condition that has been reported in only a few families. It is marked by a small head siz...