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
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
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia Missouri type is a rare disease.
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