Carpenter syndrome
| Carpenter syndrome | |
|---|---|
| Specialty | Medical genetics  |
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive craniofacial disorder.[1]
It was first characterized in 1909.[2] There are currently around 41 reported cases.[citation needed]
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
It has been associated with RAB23.[3]
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.
- ^ Carpenter, G. Case of acrocephaly with other congenital malformations. Proc. Roy. Soc. Med. 2: 45-53 and 199-201, 1909.
- ^ Jenkins D, Seelow D, Jehee FS; et al. (2007). "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity". Am. J. Hum. Genet. 80 (6): 1162–70. doi:10.1086/518047. PMID 17503333.
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See also
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