Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Carpenter's syndrome
Introduction
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]