ORPHA:485
Kniest dysplasia
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:485 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Round face
- Proptosis
- Abnormal joint morphology
- Joint stiffness
- Bell-shaped thorax
- Delayed epiphyseal ossification