Abstract
The combination of craniosynostosis with brachydactyly, polydactyly, and syndactyly is characteristic for Carpenter syndrome. Most commonly, the metopic, sagittal, and lambdoid sutures are affected, resulting in brachycephaly, a flat nasal bridge, and shallow supraorbital bridges. Severe cases may present with cloverleaf skull. Also seen are short and/or missing middle phalanges of fingers and toes II–V; flexion contractures of the interphalangeal joints; broad, partially duplicated thumbs; occasional postaxial polydactyly; preaxial polydactyly; and partial or complete syndactyly of the feet. Other features include obesity, postnatal growth retardation (< 25th percentile), variable delay in intellectual performance, low-set malformed ears, corneal opacity, microcornea, hypoplastic mandible and/or maxilla, hypogenitalism, and cryptorchidism. Cardiovascular defects occur in 50 %.
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References
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF et al (2007) RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 80(6):1162–70
Temtamy SA (1966) Carpenter’s syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome. J Pediatr 69(1):111–120
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© 2014 Springer-Verlag Berlin Heidelberg
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Mundlos, S., Horn, D. (2014). Carpenter Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_15
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DOI: https://doi.org/10.1007/978-3-540-95928-1_15
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Publisher Name: Springer, Berlin, Heidelberg
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Online ISBN: 978-3-540-95928-1
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