Spondyloepimetaphyseal dysplasia, matrilin-3 type

A spondyloepimetaphyseal dysplasia characterized 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.

Also known as: SEMD, MATN3-related, SEMD, matrilin-3 type, spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, SEMD MATN3-related, spondyloepimetaphyseal dysplasia matrilin-3 related, spondyloepimetaphyseal dysplasia matrilin-3 type, spondyloepimetaphyseal dysplasia, matrilin-3 related

0 clinical trials for this condition and its sub-types.