| 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]
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]
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]
- ^ 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.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
| 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]
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]
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]
- ^ 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.
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |