Carpenter syndrome
Definition:
Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported that mutations in MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
References:
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[1]. Jean-Luc Alessandri, et al. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A. 2010 Apr;152A(4):982-6. [Content Brief]
[2]. Stephen R F Twigg, et al. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. [Content Brief]
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