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

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.

A condition characterized by keratoconjunctivitis sicca and by scarring, fibrosis, metaplasia, and shrinkage of the conjunctiva; a side effect of the drugs practolol and eperisone.

(medicine) A chronic condition characterized by effortless regurgitation of most meals following consumption, without retching or nausea.

XY gonadal dysgenesis, a type of hypogonadism causing an externally female appearance and (left untreated) the inability to experience puberty.

A rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.