Carpenter syndrome: Difference between revisions
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'''Carpenter syndrome''', also called '''[[acrocephalopolysyndactyly]] type II''',<ref>{{OMIM|201000}}</ref> is an extremely rare [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=csone>{{cite journal |pmid=18317146 |year=2008 |month= |
'''Carpenter syndrome''', also called '''[[acrocephalopolysyndactyly]] type II''',<ref>{{OMIM|201000}}</ref> is an extremely rare [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=csone>{{cite journal |pmid=18317146 |year=2008 |month=March |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 }}</ref> congenital disorder characterized by [[craniofacial surgery|craniofacial]] malformations, [[obesity]], and [[syndactyly]].<ref name=csone/> |
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It was first characterized in 1909.<ref>{{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}}</ref> |
It was first characterized in 1909.<ref>{{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}}</ref> |
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==Genetics== |
==Genetics== |
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[[Image:autorecessive.jpg|thumb|right| |
[[Image:autorecessive.jpg|thumb|right|Carpenter syndrome has an autosomal recessive pattern of [[inheritance]].]] |
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Carpenter syndrome has been associated with [[mutation]]s in the [[RAB23]] gene,<ref name="pmid17503333">{{cite journal |pmid=17503333 |doi=10.1086/518047 |url=http://linkinghub.elsevier.com/retrieve/pii/AJHG44561 |year=2007 |month= |
Carpenter syndrome has been associated with [[mutation]]s in the [[RAB23]] gene,<ref name="pmid17503333">{{cite journal |pmid=17503333 |doi=10.1086/518047 |url=http://linkinghub.elsevier.com/retrieve/pii/AJHG44561 |year=2007 |month=June |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}}</ref> which is located on [[chromosome 6]] in humans. |
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==References== |
==References== |
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[[Category:Rare diseases]] |
[[Category:Rare diseases]] |
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[[Category:Syndromes]] |
[[Category:Syndromes]] |
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{{genetic-disorder-stub}} |
{{genetic-disorder-stub}} |
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Revision as of 15:59, 1 November 2008
| Carpenter syndrome | |
|---|---|
| Specialty | Medical genetics  |
Carpenter syndrome, also called acrocephalopolysyndactyly type II,[1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.[2]
It was first characterized in 1909.[3]
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.[4]
Genetics
Carpenter syndrome has been associated with mutations in the RAB23 gene,[5] which is located on chromosome 6 in humans.
References
- ^ Online Mendelian Inheritance in Man (OMIM): 201000
- ^ a b Perlyn, Ca; Marsh, Jl (2008). "Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings". Plastic and reconstructive surgery. 121 (3): 971–81. doi:10.1097/01.prs.0000299284.92862.6c. PMID 18317146.
{{cite journal}}: Unknown parameter|doi_brokendate=ignored (|doi-broken-date=suggested) (help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Carpenter G (1909). "Case of acrocephaly with other congenital malformations". Proc Roy Soc Med. 2: 45–53, 199–201.
- ^ Frias, Jl; Felman, Ah; Rosenbloom, Al; Finkelstein, Sn; Hoyt, Wf; Hall, Bd (1978). "Normal intelligence in two children with Carpenter syndrome". American journal of medical genetics. 2 (2): 191–9. doi:10.1002/ajmg.1320020210. PMID 263437.
{{cite journal}}: Cite has empty unknown parameter:|month=(help)CS1 maint: multiple names: authors list (link) - ^ 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 (2007). "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity". American journal of human genetics. 80 (6): 1162–70. doi:10.1086/518047. PMC 1867103. PMID 17503333.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
See also
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |