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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).[1] 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.[2]

References

  1. ^ van Haelst MM, Scambler PJ, Hennekam RC (2007). "Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria". Am J Med Genet A. PMID 18000968.
  2. ^ Smyth I, Scambler P (2005). "The genetics of Fraser syndrome and the blebs mouse mutants". Hum. Mol. Genet. 14 Spec No. 2: R269–74. PMID 16244325.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Fraser_syndrome". A list of authors is available in Wikipedia.
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