Diastrophic Dysplasia

Diastrophic dysplasia (DTD or diastrophic dwarfism) is a rare inherited disorder. It affects how fetuses’ bones and cartilage form during fetal development. People with this condition are unusually short and have short arms and legs. They may have other physical differences, too. Experts estimate about 1 in 500,000 babies in the U.S. are born with diastrophic dysplasia (die-uh-STRAH-fik dis-PLAY-zhuh).

Symptoms of diastrophic dysplasia

The most common symptom is short stature. The average height for someone with DTD is less than 4 feet (120 centimeters).

Diastrophic dysplasia may affect many areas of your child’s head and body. Your child may have some of the following issues or symptoms:

• Cleft palate
• Difficulty breathing due to cartilage in the trachea
• Ears with physical differences like unusual thickness
• Flat nasal bridge (bony area at the top of the nose)
• Full or prominent cheeks

The disorder may affect your child’s skeletal system. It may cause issues with your child’s neck and shoulders. Your child may also have conditions that affect their spine, hands, hips, knees and feet. Conditions and symptoms may include:

• Cervical instability (weak ligaments and connective tissue in your child’s neck)
• Cervical kyphosis
• Clubfoot
• Hip and knee flexion contractures that cause pain and affect your child’s ability to move around
• Dislocated joints, including your child’s shoulder or elbow
• Osteoarthritis that causes joint pain
• Scoliosis
• Short fingers and toes

Diastrophic dysplasia causes

DTD happens when the SLCA262 gene changes. This gene makes a protein that helps your body form cartilage and turn cartilage into bone.

Children may inherit this gene change if a biological parent has diastrophic dysplasia. Healthcare providers may call this an autosomal dominant inheritance pattern. There’s a 50% chance that a parent with diastrophic dysplasia will pass the genetic change on to one of their children.

How doctors diagnose diastrophic dysplasia

Typically, an obstetrician diagnoses this condition at birth. They may do tests like X-rays or CT scans to look at the bones in your baby’s arms and legs.

Sometimes, prenatal ultrasounds detect signs of diastrophic dysplasia. An obstetrician may recommend genetic tests to diagnose this condition.

How is DTD treated?

There’s no set treatment for this condition. Your child’s healthcare team will develop treatment plans for specific health issues. Your child may have treatments like:

• Braces that support their spine and joints
• Medication to manage pain and inflammation
• Orthodontic treatment to fix issues with their jaw and teeth
• Physical therapy and occupational therapy
• Surgery to correct physical differences

Research shows people with diastrophic dysplasia may have anxiety and depression. Your child may benefit from mental health support.

When should my child see their healthcare provider?

Your child will have regular checkups with their pediatrician and other caregivers. But you should contact caregivers if you see changes in your child, like new symptoms or worsening pain. That way, caregivers can act quickly to help your child.

What can I expect if my child has diastrophic dysplasia?

Diastrophic dysplasia is a chronic disease that affects people in different ways. This condition causes medical challenges, but it’s not life-threatening. It doesn’t affect life expectancy.

Your child may need surgery when they’re still very young. Surgery and hospital stays can be hard on little ones and their families. Working with a child life specialist may help.

Can diastrophic dysplasia be prevented?

There’s no way to prevent DTD. If someone in your family has this condition, consider talking to your healthcare provider about genetic testing before pregnancy. Tests will show if you have the genetic variation that causes this condition. If you do, a genetic counselor will help you understand what the test results mean.