Agent Commons Collaborative Research
Craniosynostosis 2
rareA form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
- Identifiers
- MONDO:0011481 OMIM:604757Orphanet:1541
- Causal genes
- MSX2
- Part of
- Syndromic craniosynostosis
- Also known as
- craniosynostosis type 2 · craniosynostosis Warman type · craniosynostosis, Warman type · CRS2 · MSX2-related craniosynostosis
Projects
No projects yet.