Osteodysplasia Metaphyseal

Metaphyseal osteodysplasia (o. metaphysialis) is a rare hereditary skeletal disease characterized by impaired growth and development of the metaphyses of tubular bones.

Causes

Osteodysplasia metaphyseal occurs due to mutations in the PTHRP, PTH1R, CNP or SHOX genes, which play an important role in regulating bone growth and development. The disease is inherited in an autosomal dominant manner.

Symptoms

Main clinical manifestations:

1. Deformations and shortening of the limbs due to impaired growth of bone metaphyses.

2. Bone pain.

3. Increased bone fragility, fractures.

4. Gait disturbance.

Diagnosis is based on radiography, which reveals characteristic changes in the metaphyses of the bones.

Treatment

There is no specific treatment. Symptomatic and orthopedic correction of deformities and shortening of the limbs is carried out. Early diagnosis is important for the most effective correction. The prognosis depends on the severity of the manifestations.

Thus, metaphyseal osteodysplasia is a severe hereditary bone disease that requires an integrated approach to the treatment and rehabilitation of patients.