Fraser syndrome
| Fraser syndrome | |
|---|---|
| Specialty | Medical genetics  |
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.[1][2] Fraser syndrome is named for Canadian geneticist C. R. Fraser, who first described the syndrome in 1962.
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).[3] Congenital malformations of the nose, ears, larynx and renal system, as well as mental retardation, manifest occasionally. {{citation}}: Empty citation (help) Syndactyly (fused fingers or toes) has also been noted in some cases.[4]
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.[5] It has also been associated with FREM2.[6]
Diagnosis
The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy.[4]
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.[7]
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 (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ 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 (24): 3194. doi:10.1002/ajmg.a.31951. PMID 18000968.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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. Retrieved 2009-04-06.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ 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.
- ^ 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.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ Narang M, Kumar M, Shah D (2008). "Fraser-cryptophthalmos syndrome with colonic atresia". Indian J Pediatr. 75 (2): 189–91. doi:10.1007/s12098-008-0030-9. PMID 18334805.
{{cite journal}}:|access-date=requires|url=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
 | This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it. |