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==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 surgery|craniofacial]] malformations, [[obesity]], and [[syndactyly]].<ref name=csone/>  
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>

Revision as of 20:56, 30 July 2012

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Causes & Risk Factors for Carpenter syndrome

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International

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Experimental / Informatics

List of terms related to Carpenter syndrome

Carpenter syndrome
OMIM 201000
DiseasesDB 29583

WikiDoc Resources for Carpenter syndrome

Articles

Most recent articles on Carpenter syndrome

Most cited articles on Carpenter syndrome

Review articles on Carpenter syndrome

Articles on Carpenter syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Carpenter syndrome

Images of Carpenter syndrome

Photos of Carpenter syndrome

Podcasts & MP3s on Carpenter syndrome

Videos on Carpenter syndrome

Evidence Based Medicine

Cochrane Collaboration on Carpenter syndrome

Bandolier on Carpenter syndrome

TRIP on Carpenter syndrome

Clinical Trials

Ongoing Trials on Carpenter syndrome at Clinical Trials.gov

Trial results on Carpenter syndrome

Clinical Trials on Carpenter syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Carpenter syndrome

NICE Guidance on Carpenter syndrome

NHS PRODIGY Guidance

FDA on Carpenter syndrome

CDC on Carpenter syndrome

Books

Books on Carpenter syndrome

News

Carpenter syndrome in the news

Be alerted to news on Carpenter syndrome

News trends on Carpenter syndrome

Commentary

Blogs on Carpenter syndrome

Definitions

Definitions of Carpenter syndrome

Patient Resources / Community

Patient resources on Carpenter syndrome

Discussion groups on Carpenter syndrome

Patient Handouts on Carpenter syndrome

Directions to Hospitals Treating Carpenter syndrome

Risk calculators and risk factors for Carpenter syndrome

Healthcare Provider Resources

Symptoms of Carpenter syndrome

Causes & Risk Factors for Carpenter syndrome

Diagnostic studies for Carpenter syndrome

Treatment of Carpenter syndrome

Continuing Medical Education (CME)

CME Programs on Carpenter syndrome

International

Carpenter syndrome en Espanol

Carpenter syndrome en Francais

Business

Carpenter syndrome in the Marketplace

Patents on Carpenter syndrome

Experimental / Informatics

List of terms related to Carpenter syndrome

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 an autosomal recessive pattern of inheritance.

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:

Mental deficiency is also common with the disorder, although some patients may have average intellectual capacity.[5]


References

  1. Online Mendelian Inheritance in Man (OMIM) 201000
  2. 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)
  3. Carpenter G (1909). "Case of acrocephaly with other congenital malformations". Proc Roy Soc Med. 2: 45–53, 199–201.
  4. 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)
  5. 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.

See also

nl:Syndroom van Carpenter

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