Carpenter syndrome

Carpenter syndrome
Other namesAcrocephalopolysyndactyly type II
Original case described by Carpenter, 1909
SpecialtyMedical genetics 
SymptomsTurricephaly, obesity, polydactyly, syndactyly, and broad cheeks
TypesCole–Carpenter syndrome
TreatmentPlastic surgery
PrognosisTypical lifespan, but mostly shortened due to heart problems
FrequencyExtremely rare

Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.

It was first characterized in 1909, and is named for George Alfred Carpenter.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.