Diastrophic dysplasia (diastrophic dwarfism) is a rare inherited disorder that’s present at birth. It affects the development of cartilage and bone. People with the condition often have short stature, short arms and legs, and problems with their joints.

What Is 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 and Causes

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:

Diastrophic dysplasia causes

DTD happens when the SLC26A2 gene changes. This gene makes a protein that helps your body form cartilage and convert it to bone.

Children may inherit this condition if both of their parents are carriers for it. Carriers stay healthy, but when two carriers have a child together, there's a 25% chance for the child to be affected. Healthcare providers call this an autosomal recessive inheritance pattern.

Diagnosis and Tests

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.

Management and Treatment

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:

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.

Outlook / Prognosis

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.

Prevention

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.

A note from Wockr

If your baby is born with diastrophic dysplasia, they have physical differences. They may have medical issues. But these differences don’t define who they are or what they’ll accomplish as they grow up.

Having diastrophic dysplasia creates challenges, and your child may need extra support throughout their life. Your child’s care team understands those obstacles, and they’ll be there to help you and your child manage them.