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C syndrome
rareC syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
- Identifiers
- MONDO:0008893 OMIM:211750Orphanet:1308
- Causal genes
- CD96
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic craniosynostosis
- Also known as
- Opitz C trigonocephaly · Opitz trigonocephaly C syndrome · Opitz trigonocephaly syndrome · OTCS · trigonocephaly C syndrome
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