Donohue Syndrome

Donohues syndrom

Engelsk definition

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Syndrome, Donohue Leprechaunism Leprechaunisms Rabson-Mendenhall Syndrome Rabson Mendenhall Syndrome Syndrome, Rabson-Mendenhall Mendenhall Syndrome Syndrome, Mendenhall Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities