Carpenter syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4
Overview
Overview
Carpenter syndrome [1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.[2]
Pathophysiology
Pathophysiology
Genetics
Carpenter syndrome has been associated with mutations in the RAB23 gene,[4] which is located on chromosome 6 in humans.
Diagnosis
Diagnosis
Physical Examination
Carpenter syndrome presents several features:
- Tower-shaped skull (craniosynostosis)
- Additional or fused digits (fingers and toes)
- Obesity
- Reduced height
- Mental deficiency is also common with the disorder, although some patients may have average intellectual capacity.[5]
References
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 201000
- ↑ 2.0 2.1 Perlyn, Ca; Marsh, Jl (2008). “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. Unknown parameter
|doi_brokendate=ignored (help); Unknown parameter|month=ignored (help) - ↑ Carpenter G (1909). “Case of acrocephaly with other congenital malformations”. Proc Roy Soc Med. 2: 45–53, 199–201.
- ↑ Jenkins, D; Seelow, D; Jehee, Fs; Perlyn, Ca; Alonso, Lg; Bueno, Df; Donnai, D; Josifova, D; Mathijssen, Im; Morton, Je; Orstavik, Kh; Sweeney, E; Wall, Sa; Marsh, Jl; Nurnberg, P; Passos-Bueno, Mr; Wilkie, Ao (2007). “RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity”. American journal of human genetics. 80 (6): 1162–70. doi:10.1086/518047. PMC 1867103. PMID 17503333. Unknown parameter
|month=ignored (help) - ↑ Frias, Jl; Felman, Ah; Rosenbloom, Al; Finkelstein, Sn; Hoyt, Wf; Hall, Bd (1978). “Normal intelligence in two children with Carpenter syndrome”. American journal of medical genetics. 2 (2): 191–9. doi:10.1002/ajmg.1320020210. PMID 263437.
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