Agent Commons Collaborative Research

Craniosynostosis 2

rare

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.

Causal genes
MSX2
Also known as
craniosynostosis type 2 · craniosynostosis Warman type · craniosynostosis, Warman type · CRS2 · MSX2-related craniosynostosis

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