Overview, Causes, & Risk Factors

Achondroplasia is an inherited disorder that causes short stature.

What is going on in the body?

When a person has achondroplasia, abnormal cartilage at the growth plates of the bones cause short stature. Men with achondroplasia are usually less than 52-inches tall. Women are somewhat shorter.

What are the causes and risks of the disease?

Achondroplasia is caused by a defective gene. It is one of the most common forms of dwarfism. This disease affects both sexes and people from all racial and national groups.

Symptoms & Signs

What are the signs and symptoms of the disease?

The features of achondroplasia are:

  • dwarfism
  • a large head with a prominent forehead
  • a low bridge of the nose
  • disproportionately short arms and legs
  • curvature of the spine, known as kyphosis
  • bowlegs
  • Diagnosis & Tests

    How is the disease diagnosed?

    Achondroplasia is diagnosed by its characteristic appearance. It can be diagnosed before birth by pregnancy ultrasounds on the mother. DNA testing is possible, too.

    Prevention & Expectations

    What can be done to prevent the disease?

    Achondroplasia cannot be prevented.

    What are the long-term effects of the disease?

    People with achondroplasia may develop back or knee problems. They may also experience neurological problems because of spinal cord compression. Achondroplasia does not cause learning disabilities or shorten life span.

    What are the risks to others?

    Achondroplasia is not contagious. It poses no risk to others. Affected people can pass on the condition to their children. Most cases of achondroplasia, however, are new cases in a family.

    Treatment & Monitoring

    What are the treatments for the disease?

    Surgery may be needed to treat spinal cord compression. It may be lifesaving in infants.

    Some affected people have had surgery to lengthen their legs. Currently, there are no other specific treatments for achondroplasia.

    What are the side effects of the treatments?

    Surgery carries the risks of bleeding and infection.

    What happens after treatment for the disease?

    Following surgery for spinal cord compression, the person should have no further neurological problems.

    How is the disease monitored?

    During childhood, healthcare providers monitor growth. The circumference of the head is measured to detect increased swelling or pressure in the brain. If there is an abnormal increase in a child’s head size, further studies are done.

    Article type: xmedgeneral