Spondyloepimetaphyseal dysplasia Matrilin-3 related

Alternate names

SEMD MATN3-related; Spondyloepimetaphyseal dysplasia Matrilin-3 type

Definition

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.

Epidemiology

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

Cause

It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23).

Inheritance

Autosomal recessive inheritance, a 25% chance

It is transmitted in an autosomal recessive manner.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Bowing of the legs(Bowed legs)
• Limb undergrowth(limb shortening)

30%-79% of people have these symptoms

• Disproportionate short-limb short stature(Short limb dwarfism, disproportionate)
• Limited elbow extension(Decreased elbow extension)
• Lumbar hyperlordosis(Excessive inward curvature of lower spine)
• Waddling gait('Waddling' gait)

5%-29% of people have these symptoms

• Enlarged joints
• Flat face(Flat facial shape)
• Pectus excavatum(Funnel chest)
• Thoracic hypoplasia(Small chest)

Treatment

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NIH genetic and rare disease info

• NIH info on Spondyloepimetaphyseal dysplasia Matrilin-3 related

Spondyloepimetaphyseal dysplasia Matrilin-3 related is a rare disease.

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