A very rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs.

Synonym of Müllerian agenesis

cerebrotendineous xanthomatosis

A rare disorder in which abnormal blood vessels affect the gastrointestinal tract, resulting in lesions.

(medicine) Alternative spelling of nevoid basal-cell carcinoma syndrome

(medicine) An inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones.

(medicine) A cutaneous condition characterised by pruritus, oedema and erythema of the hands and feet.

plural of Mayer-Rokitansky-Küster-Hauser syndrome