Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

A number sign (#) is used with this entry because of evidence that one form of autosomal recessive spondyloepimetaphyseal dysplasia is caused by homozygous mutation in the matrilin-3 gene (MATN3; 602109) on chromosome 2p24. One such family has been reported.

Clinical Features

Borochowitz et al. (2004) described a large consanguineous Arab Muslim family with autosomal recessive spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis, and normal hands. Skeletal findings included short, wide, and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones, and flat, ovoid vertebral bodies.

Molecular Genetics

In affected members of a consanguineous Arab family segregating SEMD, Borochowitz et al. (2004) identified homozygosity for a cys304-to-ser mutation in the MATN3 gene (602109.0005). Heterozygotes in the family had no clinical or radiographic abnormalities.