Carpenter syndrome

Carpenter syndrome

Infobox_Disease
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DiseasesDB = 29583
ICD10 =
ICD9 =
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OMIM = 201000
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Carpenter syndrome, also called acrocephalopolysyndactyly type II, [OMIM|201000] is an extremely rare autosomal recessivecite journal |pmid=18317146 |year=2008 |month=Mar |author=Perlyn, Ca; Marsh, Jl |title=Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings |volume=121 |issue=3 |pages=971–81 |doi=10.1097/01.prs.0000299284.92862.6c |journal=Plastic and reconstructive surgery |doi_brokendate=2008-09-25 ] congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.

It was first characterized in 1909. [cite journal |author=Carpenter G |title=Case of acrocephaly with other congenital malformations |journal=Proc Roy Soc Med. |volume=2 |pages=45–53, 199–201 |year=1909]

Presentation

Carpenter syndrome presents several features:

* Tower-shaped skull (craniosynostosis)
* Additional or fused digits (fingers and toes)
* Obesity
* Reduced height

Mental deficiency is also common with the disorder, although some patients may have average intellectual capacity. [cite journal |pmid=263437 |year=1978 |month= |author=Frias, Jl; Felman, Ah; Rosenbloom, Al; Finkelstein, Sn; Hoyt, Wf; Hall, Bd |title=Normal intelligence in two children with Carpenter syndrome |volume=2 |issue=2 |pages=191–9 |doi=10.1002/ajmg.1320020210 |journal=American journal of medical genetics]

Genetics

Carpenter syndrome has been associated with mutations in the RAB23 gene,cite journal |pmid=17503333 |doi=10.1086/518047 |url=http://linkinghub.elsevier.com/retrieve/pii/AJHG44561 |year=2007 |month=Jun |author=Jenkins, D; Seelow, D; Jehee, Fs; Perlyn, Ca; Alonso, Lg; Bueno, Df; Donnai, D; Josifova, D; Mathijssen, Im; Morton, Je; Orstavik, Kh; Sweeney, E; Wall, Sa; Marsh, Jl; Nurnberg, P; Passos-Bueno, Mr; Wilkie, Ao |title=RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity |volume=80 |issue=6 |pages=1162–70 |pmc=1867103 |journal=American journal of human genetics] which is located on chromosome 6 in humans.

References

ee also

*Sakati-Nyhan-Tisdale syndrome


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