ORPHA:94068
Spondyloepiphyseal dysplasia congenita
Also called Congenital spondyloepiphyseal dysplasia, SEDC, Spranger-Wiedemann disease
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:94068 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Growth delay
- Scoliosis
- Lumbar hyperlordosis
- Disproportionate short-trunk short stature
- Dysplasia of the femoral head
- Aplasia/hypoplasia involving bones of the extremities