A 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. [ Orphanet:1541 ]
Synonyms: CRS2 craniosynostosis type 2 MSX2-related craniosynostosis craniosynostosis 2 craniosynostosis, Warman type Warman-Mulliken-Hayward syndrome
Term information
- Orphanet:1541 (OMIM:604757)
- OMIM:604757 (Orphanet:1541/e)
- GARD:5538 (Orphanet:1541)
- SCTID:720817008 (MONDO:equivalentTo)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://identifiers.org/snomedct/720817008
https://omim.org/entry/604757
http://www.orpha.net/ORDO/Orphanet_1541