Dwarfism

What is dwarfism?

Dwarfism is a rare condition of short stature. The advocacy group, Little People of America (LPA), defines dwarfism as an adult height of 4 feet 10 inches or under, as a result of a medical or genetic condition. There are two main categories of dwarfism: disproportionate and proportionate. Disproportionate dwarfism (most common) is characterized by shorter extremities with an average sized torso, or a shorter torso with average sized extremities. Proportionate dwarfism is characterized by all parts of the body being small to the same degree.

What causes dwarfism?

Dwarfism can be caused by any of more than 200 previous conditions. Specifically, proportionate dwarfism is caused by metabolic and hormonal disorders, such as growth hormone deficiency or malnutrition. Disproportionate dwarfism is caused by skeletal dysplasias (most common), such as the following:

• Achondroplasia
• Spondyloepiphyseal dysplasias (SED)
• Diastrophic dysplasia

These skeletal dysplasias are caused by genetic mutations, either spontaneous or inherited.

What are the symptoms of dwarfism?

The following signs and symptoms are common in children with dwarfism:

• Late development of certain motor skills, such as sitting up or walking
• Breathing problems
• Scoliosis
• Bowed legs or leg pain
• Joint stiffness and arthritis
• Lower back pain or progressive hunching of the back
• Crowding of the teeth
• Sleep apnea
• Unexplained weight gain

How is dwarfism diagnosed?

A tentative prenatal diagnosis of dwarfism can be made before birth using an ultrasound or amniocentesis. Other forms of dwarfism are apparent at birth or during infancy and can promptly be diagnosed through X-rays and a physical examination. Molecular genetic testing can confirm a diagnosis of dwarfism caused by skeletal dysplasias, and a blood test to check for growth hormone levels can confirm a diagnosis of dwarfism caused by hormone deficiency.

What are the available treatments for dwarfism?

Since there is no cure for dwarfism, early diagnosis of dwarfism is very beneficial, as it helps to prevent or lessen some of the complications of the disease. For people that have dwarfism related to growth hormone deficiency, an administration of growth hormones can be sufficient treatment. For others, the orthopedic or medical complications of dwarfism can be treated using the following:

• Insertion of a shunt to drain excess fluid and relieve pressure on the brain
• Tracheotomy or other surgeries to improve breathing
• Corrective surgeries for physical deformities, such as club foot or bowed legs
• Surgery to widen to spinal canal to relieve spinal cord compression
• Physical therapy
• Back braces
• Orthodontic treatment to relieve crowded teeth
• Nutritional guidance and exercise to help prevent obesity and an aggravation of prior skeletal problems

Where can I find more information on dwarfism?

• WebMD
• Mayo Clinic
• NIH
• Healthline