Spondyloepimetaphyseal dysplasia Missouri type

Alternate names

SEMD Missouri type; Missouri type of spondyloepimetaphyseal dysplasia; SEMD, Missouri type; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type

Definition

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Epidemiology

The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.

Cause

This condition is caused by mutation in the MMP13 gene (locus 11q22.3).

Inheritance

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

It is transmitted in an autosomal dominant manner.

Signs and symptoms

Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs.
Predisposition deformities to osteoarthritis (especially of the knees) have been noted.

Clinical presentation

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

Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
Femoral bowing(Bowed thighbone)
Pear-shaped vertebrae
Spondyloepimetaphyseal dysplasia
Tibial bowing(Bowed shankbone)

30%-79% of people have these symptoms

Coxa vara
Genu varum(Outward bow-leggedness)
Osteoarthritis(Degenerative joint disease)
Short lower limbs(Short legs)
Short stature(Decreased body height)

5%-29% of people have these symptoms

Limitation of joint mobility(Decreased joint mobility)

Diagnosis

Treatment

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NIH genetic and rare disease info

NIH info on Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia Missouri type is a rare disease.

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