Apert's Syndrome

Aka: Apert's Syndrome, Acrocephalosyndactyly

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II. Epidemiology

  1. Autosomal Dominant (FGFR2 gene on Chromosome 10)
  2. Incidence: 1 in 160,000 live births

III. Clinical Findings

  1. Craniosynostosis
  2. Symmetric Syndactyly
  3. Coronal Suture synostosis (Brachycephaly)
  4. Wide set eyes
  5. Choanal Atresia

IV. Associated conditions

  1. Megalocephaly
  2. Cognitive Impairment
  3. Corpus callosum
  4. Atrial Septal Defect
  5. Ventricular Septal Defect
  6. Hydronephrosis

V. References

  1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]

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