Apert Syndrome: Difference between revisions
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(Created page with "= Key features = * thumbCaused 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, p...") |
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= Key features = | = Key features = | ||
[[File:Apert Syndrome.jpg|thumb]] | |||
* Caused by FGFR2 mutation, AD inherited | |||
* Incidence ~1:65,000 | * Incidence ~1:65,000 | ||
* Bicoronal [[craniosynostosis]], midfacial retrusion, exorbitism & severe hand/foot anomaly. | * Bicoronal [[craniosynostosis]], midfacial retrusion, exorbitism & severe hand/foot anomaly. | ||
Revision as of 14:38, 3 February 2024
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