Carpenter syndrome: Difference between revisions

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	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

VisualWikitext

Revision as of 20:49, 30 July 2012

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:

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.

@@ Line 20: / Line 20: @@
 {{SK}} Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4
-{{EH}}
 ==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 surgery|craniofacial]] malformations, [[obesity]], and [[syndactyly]].<ref name=csone/>
 ==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>