Conditions / Syndrome
Donohue syndrome
info ยท Syndrome
A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin recep
A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
Signs and symptoms
- Coarse facial features
- Thick vermilion border
- Hypertrichosis
- Postnatal growth retardation
- Hirsutism
- Elevated gamma-glutamyltransferase level
- Conjugated hyperbilirubinemia
- Prominent nipples
- Proptosis
- Hyperinsulinemia
Also known as: Leprechaunism