A familial syndrome characterised by taurodontism, hypotrichosis, full upper lip without a Cupid's bow, thickened and wide philtrum, and occasional juvenile glaucoma.

Alpers' disease

Alpers' disease

(pathology) Synonym of persistent genital arousal disorder.

The condition where the nose has been physiologically crippled, typically by excessive surgical removal of turbinates (mainly the inferior turbinates) in a turbinectomy or conchotomy.

Alternative form of Cornelia de Lange syndrome

A rare autosomal dominant disorder characterized by physical malformations and neurological and developmental defects.

A very rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.

A genetic disorder caused by the presence of all or part of an extra 18th chromosome, and characterised by organ defects and developmental delays.

(teratology) A form of acrocephalosyndactyly.