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Appearance
Craniorhiny | |
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Autosomal dominant inheritance |
Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips.
Signs and symptoms
Features of this condition include:
- Head or neck: anteverted nares, wide nose
- Integument: hirsutism
- Musculoskeletal system: craniosynotosis, oxycephaly/turricephaly
History
The first (and only confirmed) reports of this condition was made in 1991, seen in a father and son. Two siblings reported in 2007 are also speculated to have the condition.