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Apert Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Apert syndrome is named after the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births. Apert syndrome accounts for 4.5% of all cases of craniosynostosis.

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© 2006 Humana Press Inc.

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(2006). Apert Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_12

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_12

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

  • eBook Packages: MedicineMedicine (R0)

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