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