Spondylometaphyseal dysplasia
ORPHA:254
Definition
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy