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Apert Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

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 (Cohen and Kreiborg 1992, 1993a). Apert syndrome accounts for 4.5% of all cases of craniosynostosis.

Synonyms and Related Disorders

Acrocephalosyndactyly types 1 and 2; Apert-Crouzon disease; Vogt cephalodactyly

Genetics/Basic Defects

  1. 1.

    Inheritance

    1. a.

      Autosomal dominant

    2. b.

      Sporadic in majority (>98%) of cases, resulting from new mutations with a paternal age effect

    3. c.

      Rarity of familial cases can be explained by reduced genetic fitness of individuals because of severe malformations and the presence of mental...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Apert 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_14

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