Apert Syndrome
Key features
- Caused by FGFR2 mutation, AD inherited
- Incidence ~1:65,000
- Bicoronal craniosynostosis, midfacial retrusion, exorbitism & severe hand/foot anomaly.
- Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly).
- Craniofacial features: craniosynostosis, turribrachycephaly, hypertelorism, midfacial retrusion, cleft palate & down-slanted palpebral fissures.
- May also have: cleft palate, progressive spinal fusion, midfacial hypoplasia, airway obstruction, ↑ ICP, Chiari Malformations, brain anomalies, developmental delay, ± ↓ intelligence