II. Epidemiology
- Autosomal Dominant: FGFR2 gene, Chromosome 10
- More than half of cases are new mutations
- Incidence: 1 in 25,000 live births
- Causes 5% of Craniosynostosis cases
III. Risk factors
- Paternal age >35 years
- Family History
IV. Clinical findings
- Brachycephaly (Craniosynostosis)
- Hypertelorism
- Proptosis
- Maxillary Hypoplasia
- Beaked nose
V. Associated conditions
- Cleft Palate
- Chiari 1 Malformation
- Ear disorders
- Cervical Spine disorders
VI. References
- Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
- Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]