Entochondrostosis is a rare, hereditary skeletal disorder characterized by abnormal growth and development of the bones and cartilage. This condition primarily affects the long bones of the extremities, such as the arms and legs.
Individuals with entochondrostosis typically exhibit short stature and disproportionate limbs, where certain body parts may be larger or smaller than usual. The condition is congenital, meaning it is present at birth, and often becomes noticeable as a child grows older.
The underlying cause of entochondrostosis is a genetic mutation that affects the growth plates within the bones. These mutations disrupt the normal process of bone development and result in irregularities in bone and cartilage growth, leading to the characteristic features of this disorder.
Symptoms may vary widely among affected individuals, but common signs include abnormal bone growth, joint deformities, joint pain, and limited range of motion. Other associated features may include scoliosis (curvature of the spine), hearing loss, abnormalities of the teeth, and skeletal abnormalities in the hands and feet.
Diagnosis of entochondrostosis involves a thorough clinical examination, family medical history assessment, and imaging techniques, such as X-rays, to evaluate bone and cartilage abnormalities. Genetic testing may also be conducted to identify the specific gene mutations responsible for the condition.
Management of entochondrostosis typically involves a multidisciplinary approach, including orthopedic interventions to address limb deformities or joint issues, growth hormone therapy to improve stature, and specialized dental and audiological care to manage associated conditions. Physical therapy and adaptive devices may also be utilized to enhance mobility and maintain functional abilities.
