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Diastrophic Dysplasia

What is Diastrophic Dysplasia?

Diastrophic dysplasia, also called diastrophic dwarfism, is an inherited disease that causes a person to be extremely small in stature. It also causes joint pain, difficulty with movement, and bone and joint abnormalities.

People with diastrophic dysplasia have very short arms and legs, although their skulls are often normally sized. They are often born with bone deformities such as club foot, cleft palate, a curved spine, and "hitchhiker thumbs" which are bent back. The outside of the ears are often swollen at birth and this can result in abnormal-looking ears later in life. People with the disease also tend to have small chests and protruding abdomens. The disease can cause breathing problems in infants, particularly due to the small size of the ribcage.

Those with the disease develop joint pain from an early age and have difficulty moving their joints. These symptoms worsen with age. Walking may become difficult for people with the disease. Adult height of people with diastrophic dysplasia often ranges from 3.2 feet to 4.6 feet.

Diastrophic dysplasia does not typically affect intelligence or mental function.

How common is Diastrophic Dysplasia?

The exact prevalence of diastrophic dysplasia is unknown. One study estimated that the disease affects 1 in 100,000 people worldwide. It has been found in people of all ethnicities, but is most common in Finland.

How is Diastrophic Dysplasia treated?

The goal of treatment for people with diastrophic dysplasia is to improve and maintain mobility while relieving pain. This can be done with a combination of muscle exercises, surgery, and the use of plaster casts to hold childrens' joints in place. In particular, surgery can be used to correct club foot, to reduce compression of the spinal cord, or to correct knee joints. Surgery may need to be repeated as bone deformities tend to re-form after surgery.

It is important that people with diastrophic dysplasia do not become obese, as this puts harmful weight on their knee and ankle joints.

What is the prognosis for a person with Diastrophic Dysplasia?

Rarely, infants with diastrophic dysplasia face life-threatening breathing problems. Most people with diastrophic dysplasia live into adulthood. All will face physical challenges with walking and other movement, and may rely on various mechanical aids for mobility. They usually have normal intelligence and mental function.


Genetics Home Reference

Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.

Little People of America (LPA)

A non-profit for people with dwarfism, it offers support, guidance, and information for families affected by dwarfism. It has state and regional chapters throughout the country.

P.O. Box 750
Hillsboro, OR 97123
Phone: (888) 573-2001
Secondary Phone: (503) 846-1562

Little People, Big World

A television program documenting a family affected by dwarfism. The father, Matt Roloff, has diastrophic dysplasia, while the mother and son Zach have a different form of dwarfism.

MAGIC Foundation for Children's Growth

An organization that provides support services to families with children suffering from disorders and diseases that affect growth.

6645 W. North Avenue
Oak Park IL 60302
Phone: (800) 362-4423
Secondary Phone: (708) 383-0808

Other names for Diastrophic Dysplasia

  • DTD
  • Diastrophic Dwarfism
  • DD
  • Sulfate Transporter-Related Osteochondrodysplasia
  • Diastrophic Dysplasia

Counsyl has renamed its products effective July 19, 2017. The Family Prep Screen is now the Foresight Carrier Screen.

The new names now appear on all communications from Counsyl. If you have any questions, please contact Counsyl directly.

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