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
Sporadic in majority (>98%) of cases, resulting from new mutations with a paternal age effect
Rarity of familial cases can be explained by reduced genetic fitness of individuals because of severe malformati ...
Reference Work Entry Metrics
- Apert Syndrome
- Reference Work Title
- Atlas of Genetic Diagnosis and Counseling
- pp 119-133
- Print ISBN
- Online ISBN
- Springer US
- Copyright Holder
- Springer Science+Business Media, LLC
- Additional Links
- Industry Sectors
- Harold Chen (1)
- Editor Affiliations
- 1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center
To view the rest of this content please follow the download PDF link above.