Fraser syndrome
| Fraser syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 219000 |
| DiseasesDB | 32241 |
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.[1][2] The syndrome is named after George Fraser.[3]
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Signs and symptoms
It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and malformations in the genitals (such as micropenis, cryptorchidism or clitoromegaly).[4] Congenital malformations of the nose, ears, larynx, and renal system, as well as mental retardation, manifest occasionally. Syndactyly (fused fingers or toes) has also been noted in some cases. [5]
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.[6] It has also been associated with FREM2.[7]
Diagnosis
The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.[5]
Epidemiology
The incidence of Fraser syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths, making it a rare syndrome.[8]
References
- ^ Jules François. Syndrome malformatif avec cryptophthalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.
- ^ Francannet C, Lefrançois P, Dechelotte P, Robert E, Malpuech G, Robert JM (August 1990). "Fraser syndrome with renal agenesis in two consanguineous Turkish families". American journal of medical genetics 36 (4): 477–479. doi:10.1002/ajmg.1320360421. PMID 2389805.
- ^ synd/2010 at Who Named It?
- ^ 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 143a: 3194. doi:10.1002/ajmg.a.31951. PMID 18000968.
- ^ a b Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G (2008). "Fraser syndrome". Indian J Pathol Microbiol 51 (2): 228–9. doi:10.4103/0377-4929.41664. PMID 18603689. http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2008;volume=51;issue=2;spage=228;epage=229;aulast=Kalpana. Retrieved 2009-04-06.
- ^ Smyth I, Scambler P (2005). "The genetics of Fraser syndrome and the blebs mouse mutants". Hum Mol Genet. 14 Spec No. 2: R269–274. doi:10.1093/hmg/ddi262. PMID 16244325. http://hmg.oxfordjournals.org/cgi/content/full/14/suppl_2/R269.
- ^ 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): 520–525. doi:10.1038/ng1549. PMID 15838507.
- ^ Narang M, Kumar M, Shah D (February 2008). "Fraser-cryptophthalmos syndrome with colonic atresia". Indian J Pediatr 75 (2): 189–91. doi:10.1007/s12098-008-0030-9. PMID 18334805.
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