X-linked dominant chondrodysplasia, Chassaing-Lacombe type
ORPHA:163966· ICD-10 Q87.8
Definition
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal