Carpenter syndrome: Difference between revisions
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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=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}}</ref> which is located on [[chromosome 6]] in humans. | 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=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}}</ref> which is located on [[chromosome 6]] in humans. | ||
==Diagnosis== | ==Diagnosis== | ||
===Physical Examination=== | ===Physical Examination=== | ||
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* [[Tower-shaped skull]] ([[craniosynostosis]]) | * [[Tower-shaped skull]] ([[craniosynostosis]]) | ||
* Additional or fused digits (fingers and toes) | * Additional or [[fused digits]] (fingers and toes) | ||
* [[Obesity]] | * [[Obesity]] | ||
* Reduced height | * [[Reduced height]] | ||
* [[Mental deficiency]] is also common with the disorder, although some patients may have average intellectual capacity.<ref>{{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}}</ref> | |||
[[Mental deficiency]] is also common with the disorder, although some patients may have average intellectual capacity.<ref>{{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}}</ref> | |||
==References== | ==References== | ||
Latest revision as of 12:33, 31 July 2012
| Carpenter syndrome | |
| OMIM | 201000 |
|---|---|
| DiseasesDB | 29583 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4
Overview
Carpenter syndrome [1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.[2]
Historical Perspective
It was first characterized in 1909.[3]
Pathophysiology
Genetics
Carpenter syndrome has been associated with mutations in the RAB23 gene,[4] which is located on chromosome 6 in humans.
Diagnosis
Physical Examination
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.[5]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 201000
- ↑ 2.0 2.1 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. Unknown parameter
|doi_brokendate=ignored (help); Unknown parameter|month=ignored (help) - ↑ Carpenter G (1909). "Case of acrocephaly with other congenital malformations". Proc Roy Soc Med. 2: 45–53, 199–201.
- ↑ 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. Unknown parameter
|month=ignored (help) - ↑ 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.