Hypochondroplasia
ORPHA:429· ICD-10 Q77.4
Definition
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal