Spondyloepimetaphyseal dysplasia Matrilin-3 related

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Spondyloepimetaphyseal dysplasia, matrilin-3 type is 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.

The syndrome has been described in a large consanguineous Arab Muslim family.

It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. *

Visit the Orphanet disease page for more resources.

Last updated: 11/1/2009

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