Apert Syndrome: Difference between revisions
Jump to navigation
Jump to search
(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...") |
m (The LinkTitles extension automatically added links to existing pages (https://github.com/bovender/LinkTitles).) |
||
| (3 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
= 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. | ||
* Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly). | * Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly). | ||
* Craniofacial features: craniosynostosis, turribrachycephaly, hypertelorism, midfacial retrusion, cleft palate & down-slanted palpebral fissures. | * 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 | * May also have: cleft palate, progressive spinal fusion, midfacial hypoplasia, airway obstruction, ↑ ICP, [[Chiari Malformations]], brain anomalies, developmental delay, ± ↓ intelligence | ||
[[Category:Pediatric Neurosurgery]] | |||
[[Category:Cranial Development Abnormalities]] | |||
[[Category:Craniosynostosis]] | |||
Latest revision as of 22:00, 3 March 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