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Craniorhiny
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.