Osteopathia striata-cranial sclerosis syndrome
ORPHA:2780· ICD-10 Q78.8
Definition
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal