| Carpenter syndrome | |
|---|---|
| Other names | Acrocephalopolysyndactyly type II |
 | |
| Original case described by Carpenter, 1909 | |
| Specialty | Medical genetics  |
 | This article needs additional citations for verification. (October 2024) |
Carpenter syndrome, also called acrocephalopolysyndactyly type II,[1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.[2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
It was first characterized in 1909, and is named for George Alfred Carpenter.[3][4]
- ^ Online Mendelian Inheritance in Man (OMIM): 201000
- ^ a b Perlyn, Ca; Marsh, Jl (March 1909). "Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings". Plastic and Reconstructive Surgery. 121 (3): 971–81. doi:10.1097/01.prs.0000299284.92862.6c. PMID 18317146. S2CID 21493967.
- ^ Carpenter G (1909). "Case of acrocephaly with other congenital malformations". Proceedings of the Royal Society of Medicine. 2 (Sect Study Dis Child): 45–53, 199–201. doi:10.1177/003591570900201418. PMC 2047261. PMID 19974019.
- ^ Beighton, Peter; Beighton, Greta (2012-12-06). The Man Behind the Syndrome. Springer Science & Business Media. p. 25. ISBN 9781447114154. Retrieved 7 August 2018.