Reference Work Entry

Atlas of Genetic Diagnosis and Counseling

pp 119-133

Apert Syndrome

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.
    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 malformati ...

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