Spondyloepiphyseal dysplasia, Kimberley type
ORPHA:93283· ICD-10 Q77.7
Definition
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal