Achondroplasia
ORPHA:15· ICD-10 Q77.4
Definition
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal