Carpenter syndrome: Difference between revisions
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{{Infobox_Disease | {{Infobox_Disease | ||
| Name = {{PAGENAME}} | | Name = {{PAGENAME}} | ||
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{{CMG}} | |||
{{SI}} | {{SI}} | ||
{{SK}} Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4 | {{SK}} Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4 | ||
==Overview== | ==Overview== | ||
Carpenter syndrome <ref>{{OMIM|201000}}</ref> is an extremely rare [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=csone>{{cite 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 }}</ref> congenital disorder characterized by [[craniofacial malformations]], [[obesity]], and [[syndactyly]].<ref name=csone/> | |||
==Historical Perspective== | ==Historical Perspective== | ||
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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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
[[Image:autorecessive.jpg|thumb|left|100px| | [[Image:autorecessive.jpg|thumb|left|100px|Carpenter Syndrome has an autosomal recessive pattern of [[inheritance]].]] | ||
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=== | ||
Carpenter syndrome presents several features: | Carpenter syndrome presents several features: | ||
* Tower-shaped | * [[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== | ||
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[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:FLK]] | |||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
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.