Spondyloepiphyseal dysplasia congenita
ORPHA:94068· ICD-10 Q77.7
Definition
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal