Craniofrontonasal dysplasia
ORPHA:1520· ICD-10 Q87.1
Definition
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
- Prevalence
- Unknown
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Neonatal