Donohue Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia.

**Synonyms:** - Leprechaunism - Leprechaunism