Carpenter syndrome: Difference between revisions

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Carpenter syndrome is an extremely rare, autosomal recessive craniofacial disorder.^[1] There are currently around 41 reported cases.

Presentation

Carpenter syndrome is characterized by:

Tower-shaped skull (craniosynostosis)
Additional or fused digits (fingers and toes)
Obesity
Reduced height

Mental deficiency is also common with Carpenter syndrome, although a few patients may have an average intellectual capacity.^{[citation needed]}

Genetics

Carpenter syndrome has an autosomal recessive pattern of inheritance.

References

^ Perlyn CA, Marsh JL (2008). "Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings". Plast Reconstr Surg. 121 (3): 971–981. PMID 18317146.

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-'''Carpenter's syndrome''' is an extremely rare [[craniofacial surgery|craniofacial]] disorder. There are currently around 41 reported cases.
+'''Carpenter syndrome''' is an extremely rare, [[autosomal recessive]] [[craniofacial surgery|craniofacial]] disorder.<ref name=csone>{{cite journal |author=Perlyn CA, Marsh JL |title=Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings |journal=Plast Reconstr Surg. |volume=121 |issue=3 |pages=971-981 |year=2008 |pmid=18317146 }}</ref> There are currently around 41 reported cases.
+==Presentation==
-Carpenter's Syndrome is characterized by:
+Carpenter syndrome is characterized by:
-* Tower-shaped [[skull]]
-* Additional or fused fingers and/or toes
+* Tower-shaped [[skull]] ([[craniosynostosis]])
+* Additional or fused digits (fingers and toes)
 * [[Obesity]]
 * Reduced height
-[[Mental deficiency]] is common in people with Carpenter's Syndrome, although a few sufferers enjoy an average intellectual capacity.
+[[Mental deficiency]] is also common with Carpenter syndrome, although a few patients may have an average intellectual capacity.{{fact|date=March 2008}}
+==Genetics==
+[[Image:autorecessive.jpg|thumb|right|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]]
+==References==
+{{reflist}}
+==See also==
+*[[Sakati syndrome]]
+{{Congenital malformations and deformations of musculoskeletal system}}
 {{genetic-disorder-stub}}
 [[Category:Genetic disorders]]
+[[Category:Autosomal recessive disorders]]
+[[Category:Rare diseases]]
+[[Category:Syndromes]]
 [[nl:Syndroom van Carpenter]]