ORPHA:2635
Metatropic dysplasia
Also called Metatropic dwarfism
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2635 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- High forehead
- Abnormal rib morphology
- Narrow chest
- Abnormal metaphysis morphology
- Joint stiffness
- Scoliosis