Achondrogenesis type 1A
ORPHA:93299· ICD-10 Q77.0
Definition
A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal