Fraser syndrome

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Fraser syndrome, also called Meyer-Schwickerath’s syndrome, Fraser-François syndrome,[1] or Ullrich-Feichtiger syndrome, is an autosomal recessive[2] congenital disorder.

It is characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly).[3]

Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally.

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.[4]

It has also been associated with FREM2.[5]

It is named for George Fraser.[6]

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