Fraser syndrome

Fraser syndrome is an autosomal recessive genetic disease, characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally. The Fraser syndrome is also known as: Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome.

The genetic background of this disease has been linked to a gene called FRAS1, which seems to be involved in skin epithelial morphogenesis during early development.

Fraser-Syndrom Fraserin oireyhtymä