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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMD MATN3-related
related
SEMD, MATN3-related
exact
SEMD, matrilin-3 type
exact
spondyloepimetaphyseal dysplasia matrilin-3 related
related
spondyloepimetaphyseal dysplasia matrilin-3 type
related
spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
exact