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Diastrophic dysplasia (DTD) is a type of skeletal dysplasia. Skeletal dysplasia, or dwarfism, occurs in approximately one in every 4,000 live births. Diastrophic dysplasia is a particularly rare form of skeletal dysplasia which inhibits normal growth during development, affecting the skeleton, tendons, ligaments and joints.

Diastrophic dysplasia encompasses a range of conditions, some of which are severe and some of which are relatively mild. The diagnosis of dwarfing and skeletal dysplasia is most often based on physical features and hallmarks that are apparent at birth.

A child with diastrophic dysplasia may have some or all of the following physical characteristics:

• Short limbs;
• Narrow nasal bridge and broad midportion of the nose;
• Long and broad philtrum (space between upper lip and nose);
• High, broad forehead;
• Cleft palate;
• Spinal deformities;
• Dislocations of the elbow and shoulder;
• Dislocated kneecaps;
• Shortened and hardened tissue at large joints with deformities;
• Malformed hands and feet (e.g. ulnar deviation of the fingers, gap between the first and second toes; clubfoot);
• Hitchhiker thumbs.

Diastrophic dysplasia is rarely fatal at birth and most affected individuals develop physical limitations with normal intelligence. With quality medical care, people with diastrophic dysplasia can lead normal lives.

Diastrophic dysplasia prevents normal growth of the skeleton, tendons, ligaments, and joint capsules, causing restricted joint mobility. Joint contractures, spine deformity, and problems with the hip and pelvis tend to worsen with age. The knee is often unstable in childhood and the development of the patella, or kneecap, may prevent full leg extension. A mild degree of muscular hypoplasia (underdevelopment) of the thighs and legs is common. Many adults stand solely on their metatarsals and toes because foot deformities and shortened tendons prevent their heels from touching the ground. Although diastrophic dysplasia may pose serious challenges to development and mobility, walking is possible with proper medical care.

Children and adults with dwarfing and skeletal dysplasia are able to lead normal lives with proper medical attention focused on alleviation of symptoms and prevention of further complications. This care includes knowledgeable pediatric care and periodic orthopedic and neurologic examination.

Treatment may include:

• Orthopedic procedures for lengthening of the limb bones and correction of bowed legs (usually after full growth has been achieved);
• Surgery (lumbar laminectomy) when spinal stenosis (narrowing) causes symptoms;
• Physical therapy.

For more information about diastrophic dysplasia, read Zachary's story.

For more information about other types of skeletal dysplasia, visit the NIH.

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