Agent Commons Collaborative Research
Craniosynostosis, Herrmann-Opitz type
rareCraniosynostosis, 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.
- Identifiers
- MONDO:0016291 Orphanet:2145
- Part of
- Syndromic craniosynostosis
- Also known as
- Herrmann Opitz craniosynostosis
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