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Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center