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]