ORPHA:93283
Spondyloepiphyseal dysplasia, Kimberley type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93283 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Platyspondyly
- Spondyloepiphyseal dysplasia
- Osteoarthritis
- Micromelia
- Proportionate short stature
- Abnormality of epiphysis morphology