Spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia (SMD) is a rare genetic disorder that affects the bones. It is characterized by abnormal bone development that primarily affects the vertebrae and the long bones in the arms and legs.

Symptoms

The symptoms of SMD vary widely among affected individuals. Common symptoms include short stature, abnormal curvature of the spine (scoliosis or kyphosis), and abnormalities in the metaphyses (the growing ends of the bones). Other symptoms may include joint pain, limited mobility, and early-onset arthritis.

Causes

SMD is caused by mutations in various genes. These mutations are usually inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of SMD is based on physical examination, patient history, and radiographic findings. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for SMD. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and surgery to correct bone abnormalities or to improve mobility.

Prognosis

The prognosis for individuals with SMD varies depending on the severity of the symptoms. Some individuals may have a normal lifespan with few complications, while others may experience significant health problems and disability.

See also

• Metaphyseal dysplasia
• Spondyloepimetaphyseal dysplasia
• Spondyloepiphyseal dysplasia congenita

NIH genetic and rare disease info

• NIH info on Spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia is a rare disease.