Carpenter syndrome: Difference between revisions

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{{Infobox_Disease
{{Infobox_Disease
  | Name          = {{PAGENAME}}
  | Name          = {{PAGENAME}}
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  | MeshID        =  
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{{CMG}}
{{SI}}
{{SI}}
{{CMG}}
{{SK}} Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4
{{SK}} Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4


{{EH}}
==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>
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==Pathophysiology==
==Pathophysiology==
===Genetics===
===Genetics===
[[Image:autorecessive.jpg|thumb|left|100px|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]]
[[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==
===History and Symptoms===
===Physical Examination===
Carpenter syndrome presents several features:
Carpenter syndrome presents several features:


* 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==
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*[[Sakati-Nyhan-Tisdale syndrome]]
*[[Sakati-Nyhan-Tisdale syndrome]]


{{Multiple abnormalities}}
{{SIB}}


[[Category:Disease]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Syndromes]]
[[Category:Syndromes]]
 
[[Category:FLK]]
[[nl:Syndroom van Carpenter]]


{{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]

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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:

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

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