Carpenter in 1901 described two living siblings and one stillborn sibling with peculiar facies, acrocephaly, brachydactyly, syndactyly of the hands, and preaxial polydactyly and syndactyly of the toes. Temtamy in 1966 documented 12 additional cases (10 of which were familial) and proposed the eponymous designation “Carpenter syndrome.”
Synonyms and Related Disorders
Acrocephalopolysyndactyly type II
Genetics/Basic Defects
- 1.
An autosomal recessive inheritance: unlike other acrocephalosyndactyly syndromes or acrocephalopolysyndactyly syndrome
- 2.
Caused by mutations in RAB23, a negative regulator of hedgehog signaling involved in cranial suture development (Jenkins et al. 2007)
Clinical Features
- 1.
Craniofacial anomalies (Perlyin and Marsh 2008)
- a.
Craniosynostosis (abnormal fusion of the cranial sutures): the basic abnormality of the craniofacial skeleton in Carpenter syndrome
- i.
Premature closure of the sagittal, metopic, and lambdoid sutures, with coronal suture often remaining patent...
- i.
- a.
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References
Carpenter, G. (1901). Two sisters showing malformations of the skull and other congenital abnormalities. Report of the Society for the Study of Disease in Children (London), 1, 110.
Carpenter, G. (1909). Case of acrocephaly with other congenital malformations. Proceedings of the Royal Society of Medicine, 2(45–53), 199–201.
Cohen, D. M., Green, J. G., Miller, J., et al. (1987). Acrocephalopolysyndactyly type II-Carpenter syndrome: Clinical spectrum and an attempt at unification with goodman and summitt syndromes. American Journal of Medical Genetics, 28, 311–324.
Cohen, M. M., Jr. (2009). Perspectives on craniosynostosis: Sutural biology, some well-known syndromes, and some unusual syndromes. The Journal of Craniofacial Surgery, 20(Suppl 1), 646–651.
Der Kaloustian, V. M., Sinno, A. A., & Nassar, S. I. (1972). Acrocephalopolysyndactyly, type II (Carpenter syndrome). American Journal of Diseases of Children, 124, 716.
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Jenkins, D., Seelow, D., Jehee, F. S., et al. (2007). RAB23 mutations in carpenter syndrome imply an unexpected note for hedgehog signaling in cranial suture development and obesity. American Journal of Human Genetics, 80, 1162–1170.
Marsh, J. L., & Vannier, M. W. (1995). Comprehensive care for craniofacial deformities (p. 208). St. Louis: Mosby.
Palacios, E., & Schimke, R. N. (1969). Craniosynostosis-syndactylism. American Journal of Roentgenology, 106, 144–155.
Perlyin, C. A., & Marsh, J. L. (2008). Craniofacial dysmorphology of Carpenter syndrome: Lessons from three affected siblings. Plastic and Reconstructive Surgery, 121, 971–981.
Poole, M. D. (1993). Surgical caution with Carpenter’s syndrome. Journal of Cranio-Maxillo-Facial Surgery, 21, 93.
Puri, V., Thirupuram, S., Jain, T. S., et al. (1980). Acrocephalosyndactyly type II (Carpenter’s syndrome). Indian Pediatrics, 17, 175.
Robinson, L. K., James, H. E., Mubarak, S. J., et al. (1985). Carpenter syndrome: Natural history and clinical spectrum. American Journal of Medical Genetics, 20, 461–469.
Temtamy, S. A. (1966). Carpenter’s syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome. Journal of Pediatrics, 69, 111–120.
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(2012). Carpenter Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_32
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