Fraser syndrome

Fraser syndrome

Infobox_Disease
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DiseasesDB = 32241
ICD10 =
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OMIM = 219000
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Fraser syndrome, also called Meyer-Schwickerath's syndrome, Fraser-François syndrome, [Jules François. Syndrome malformatif avec cryptophthalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.] or Ullrich-Feichtiger syndrome, is an autosomal recessive [cite journal |pmid=2389805 |year=1990 |month=Aug |author=Francannet C, Lefrançois P, Dechelotte P, Robert E, Malpuech G, Robert JM |title=Fraser syndrome with renal agenesis in two consanguineous Turkish families |volume=36 |issue=4 |pages=477-479 |doi=10.1002/ajmg.1320360421 |journal=American journal of medical genetics] congenital disorder.

Presentation

It is characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). [cite journal |author=van Haelst MM, Scambler PJ, Hennekam RC |title=Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria |journal=Am J Med Genet a |volume= 143a|issue= |pages= 3194|year=2007 |pmid=18000968 |doi=10.1002/ajmg.a.31951]

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

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. [cite journal |author=Smyth I, Scambler P |title=The genetics of Fraser syndrome and the blebs mouse mutants |journal=Hum Mol Genet. |volume=14 Spec No. 2 |issue= |pages=R269-274 |year=2005 |pmid=16244325 |url=http://hmg.oxfordjournals.org/cgi/content/full/14/suppl_2/R269 |doi=10.1093/hmg/ddi262]

It has also been associated with FREM2.cite journal |author=Jadeja S, Smyth I, Pitera JE, "et al" |title=Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs |journal=Nat. Genet. |volume=37 |issue=5 |pages=520-525 |year=2005 |pmid=15838507 |doi=10.1038/ng1549]

Eponym

It is named for George Fraser. [WhoNamedIt|synd|2010]

References


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