Craniorhiny
| Craniorhiny | |
|---|---|
 | |
| Autosomal dominant inheritance |
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:[1][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.[3]
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.[2]
References
- ^ a b "Craniorhiny (Concept Id: C1852501)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-16.
- ^ a b "180360 - RHINY". www.omim.org. Retrieved 2023-09-16.
- ^ a b "Clinical Synopsis - 123050 - CRANIORHINY - OMIM". omim.org. Retrieved 2023-09-16.