Catalog

Spondyloepimetaphyseal dysplasia, matrilin-3 type

No MMS code

Link to WHO Definition

Spondyloepimetaphyseal dysplasia, matrilin-3 type – http://id.who.int/icd/entity/1983063881

Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.