ORPHA:93356
Spondyloepimetaphyseal dysplasia, Missouri type
Also called SEMD type 2, SEMD, Missouri type, Spondyloepimetaphyseal dysplasia type 2
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Childhood, Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93356 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Genu varum
- Femoral bowing
- Tibial bowing
- Flared metaphysis
- Metaphyseal irregularity
- Flattened epiphysis