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Carpenter Syndrome

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Abstract

Carpenter in 1901 (Carpenter 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 (Temtamy 1966) documented 12 additional cases (ten of which were familial) and proposed the eponymous designation “Carpenter syndrome.”

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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.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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 Summit syndromes. American Journal of Medical Genetics, 28, 311–324.

    Article  CAS  PubMed  Google Scholar 

  • Der Kaloustian, V. M., Sinno, A. A., & Nassar, S. I. (1972). Acrocephalopolysyndactyly, type II (Carpenter syndrome). American Journal of Diseases of Children, 124, 716.

    Google Scholar 

  • Eaton, A. P., Sommer, A., Kontras, S. B., et al. (1974). Carpenter syndrome-acrocephalopolysyndactyly type II. Birth Defects Original Article Series, 10, 249–260.

    CAS  PubMed  Google Scholar 

  • Gershoni-Baruch, R. (1990). Carpenter syndrome: Marked variability of expression to include the Summit and Goodman syndromes. American Journal of Medical Genetics, 35, 236–240.

    Article  CAS  PubMed  Google Scholar 

  • Haye, D., Collet, C., Sembely-Taveau, C., et al. (2014). Prenatal findings in Carpenter syndrome and a novel mutation in RAB23. American Journal of Medical Genetics Part A, 164A, 2926–2930.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kadakia, S., Helman, S. N., Healy, N. J., et al. (2014). Carpenter syndrome: A review for the craniofacial surgeon. The Journal of Craniofacial Surgery, 25, 1653–1657.

    Article  PubMed  Google Scholar 

  • Marsh, J. L., & Vannier, M. W. (1995). Comprehensive care for craniofacial deformities (p. 208). St. Louis: Mosby.

    Google Scholar 

  • Perlyn, C. A., & Marsh, J. L. (2008). Craniofacial dysmorphology of Carpenter syndrome: Lessons from three affected siblings. Plastic and Reconstructive Surgery, 121, 971–981.

    Article  CAS  PubMed  Google Scholar 

  • Poole, M. D. (1993). Surgical caution with Carpenter’s syndrome. Journal of Cranio-Maxillo-Facial Surgery, 21, 93.

    Article  CAS  PubMed  Google Scholar 

  • Puri, V., Thirupuram, S., Jain, T. S., et al. (1980). Acrocephalosyndactyly type II (Carpenter’s syndrome). Indian Pediatrics, 17, 175.

    CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • Temtamy, S. A. (1966). Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome. Journal of Pediatrics, 69, 111–120.

    Article  CAS  PubMed  Google Scholar 

  • Twigg, S. R., Lloyd, D., Jenkins, D., et al. (2012). Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. American Journal of Human Genetics, 91, 897–905.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Chen, H. (2017). Carpenter Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_32

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_32

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  • Publisher Name: Springer, New York, NY

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