Back متلازمة كاربنتر Arabic Carpenterov sindrom BS Carpenter-Syndrom German Síndrome de Carpenter Spanish Carpenterin oireyhtymä Finnish תסמונת קרפנטר HE Sindrome di Carpenter Italian Syndroom van Carpenter Dutch Zespół Carpentera Polish
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| Carpenter syndrome | |
|---|---|
| Other names | Acrocephalopolysyndactyly type II |
 | |
| Original case described by Carpenter, 1909 | |
| Specialty | Medical genetics  |
| Symptoms | Turricephaly, obesity, polydactyly, syndactyly, and broad cheeks |
| Types | Cole–Carpenter syndrome |
| Treatment | Plastic surgery |
| Prognosis | Typical lifespan, but mostly shortened due to heart problems |
| Frequency | Extremely rare |
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.