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Aarskog-like syndrome is a rare genetic condition that looks very similar to Aarskog–Scott syndrome but does not always meet every classic feature or may be caused...
Aase-Smith syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft...
Abdallat–Davis–Farrage syndrome is a rare, autosomal recessive neurocutaneous disorder first characterized in 1980 by Abdallat, Davis, Farrage, and McDonald in a Jordanian family. Clinically, it presents...
Abetalipoproteinemia, also known as Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder in which the body cannot properly assemble or secrete the lipoproteins that carry dietary...
Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the...
Ablepharon-macrostomia syndrome is a very rare genetic condition present from birth. It mainly affects parts of the body that come from the outer layer of the...
Abruzzo–Erickson syndrome (often shortened to AES) is an extremely rare, inherited condition that affects several parts of the body from birth. The most common signs are...
Absence of dermatoglyphics–congenital milia syndrome is a very rare inherited skin condition where a baby is born without fingerprints (no dermatoglyphics), with tiny white cysts on...
Absence of fingerprints–congenital milia syndrome is a very rare inherited skin condition in which a person is born without the usual ridge patterns on the fingertips,...
Absence of fingerprints–congenital milia syndrome is a very rare genetic skin condition. Babies are born with no fingerprints on their fingers, palms, toes, or soles. Soon...
Absent radius–anogenital anomalies syndrome is a very rare, genetic condition present from birth. The key features are: (1) the radius bone in the forearm is missing...
Absent tibia–polydactyly–arachnoid cyst syndrome is an extremely rare genetic condition first described in 1995. Babies are born with a combination of problems that affect the legs,...
