Craniorhiny

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

Craniorhiny
Autosomal dominant inheritance

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
  1. "Craniorhiny (Concept Id: C1852501)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-16.
  2. "180360 - RHINY". www.omim.org. Retrieved 2023-09-16.
  3. "Clinical Synopsis - 123050 - CRANIORHINY - OMIM". omim.org. Retrieved 2023-09-16.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.