ORPHA:156728
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Also called SEMD, MATN3-related, SEMD, matrilin-3 type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:156728 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Bowing of the legs
- Short stature
- Limb undergrowth
- Limited elbow extension
- Waddling gait
- Lumbar hyperlordosis