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