Craniorhiny Explained

Craniorhiny
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Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips.^{[1] [2]}

Signs and symptoms

Features of this condition include:^[3]

• Head or neck: anteverted nares, wide nose, recessed forehead
• Integument: nasal hirsutism
• Musculoskeletal system: craniosynotosis, oxycephaly/turricephaly

Infranasal spherical cyst-like formations with fistulas have also been seen.

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.

Notes and References

1. Web site: Craniorhiny (Concept Id: C1852501) . 2023-09-16 . www.ncbi.nlm.nih.gov . en.
2. Web site: 180360 - RHINY . 2023-09-16 . www.omim.org . en-us.
3. Web site: Clinical Synopsis - 123050 - CRANIORHINY - OMIM . 2023-09-16 . omim.org.