Mega-epiphyseal dwarfism

Mega-epiphyseal dwarfism is a rare genetic disorder characterized by short stature, large joints, and specific radiographic features. It is also known as Multiple epiphyseal dysplasia, MED, or Fairbank's disease.

Etiology

Mega-epiphyseal dwarfism is caused by mutations in the COL9A1, COL9A2, COL9A3, COMP, MATN3, and SLC26A2 genes. These genes are involved in the formation of cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most of these mutations change single amino acids in cartilage components, which can alter the structure and stability of the cartilage.

Symptoms

The most common symptom of mega-epiphyseal dwarfism is short stature. Other symptoms may include large joints, a waddling gait, early-onset arthritis, and limited range of motion. Some individuals may also have mild scoliosis, flat feet, and outward-turned knees.

Diagnosis

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

Treatment

There is currently no cure for mega-epiphyseal dwarfism. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and, in some cases, surgery to correct bone abnormalities.

Prognosis

The prognosis for individuals with mega-epiphyseal dwarfism varies. Some individuals may have a normal lifespan with few complications, while others may experience significant health problems related to the disorder.

See also

• Dwarfism
• Genetic disorder
• Cartilage

NIH genetic and rare disease info

• NIH info on Mega-epiphyseal dwarfism

Mega-epiphyseal dwarfism is a rare disease.