Craniorhiny

Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis and facial anomalies around the nose base and lips.

Signs and symptoms

Features of this condition include:

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 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.