Neuro

Apert's Syndrome

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Apert's Syndrome, Acrocephalosyndactyly

  • See Also
  1. Craniosynostosis
  • Epidemiology
  1. Autosomal Dominant (FGFR2 gene on Chromosome 10)
  2. Incidence: 1 in 160,000 live births
  • Clinical Findings
  1. Craniosynostosis
  2. Symmetric Syndactyly
  3. Coronal Suture synostosis (Brachycephaly)
  4. Wide set eyes
  5. Choanal Atresia
  • Associated conditions
  1. Megalocephaly
  2. Cognitive Impairment
  3. Corpus callosum
  4. Atrial Septal Defect
  5. Ventricular Septal Defect
  6. Hydronephrosis
  • References
  1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]