Carpenter syndrome: Difference between revisions
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'''Carpenter syndrome''' is an extremely rare |
'''Carpenter syndrome''', also called '''acrocephalopolysyndactyly type II''', 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. |
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==Presentation== |
==Presentation== |
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Revision as of 07:03, 28 March 2008
Carpenter syndrome, also called acrocephalopolysyndactyly type II, 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
References
See also
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