Fraser syndrome
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| Fraser syndrome Classification and external resources |
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| OMIM | 219000 |
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| DiseasesDB | 32241 |
Fraser syndrome is an autosomal recessive genetic disorder.
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[edit] Eponym
It is named for George Fraser, but it has many other names,[1] including Meyer-Schwickerath's syndrome, Fraser-François syndrome,[2] or Ullrich-Feichtiger syndrome.
[edit] Presentation
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.
[edit] Genetics
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]
[edit] References
- ^ synd/2010 at Who Named It
- ^ Jules François. Syndrome malformatif avec cryptophthalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.
- ^ 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. doi:. PMID 18000968.
- ^ Smyth I, Scambler P (2005). "The genetics of Fraser syndrome and the blebs mouse mutants". Hum Mol Genet. 14 Spec No. 2: R269–74. doi:. PMID 16244325.
- ^ Jadeja S, Smyth I, Pitera JE, et al (2005). "Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs". Nat. Genet. 37 (5): 520–5. doi:. PMID 15838507.
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