Spondyloepimetaphyseal dysplasia, matrilin-3 type (Q88336)

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.