Diastrophic Dysplasia

What Is Diastrophic Dysplasia?

Diastrophic dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow.

With regular care from medical specialists, kids with diastrophic dysplasia (die-uh-STRAH-fik dis-PLAY-zhuh) can live a full life.

What Are the Signs & Symptoms of Diastrophic Dysplasia?

People with diastrophic dysplasia usually have dwarfism. They might also have:

• a red birthmark in the middle of the forehead
• cleft palate
• in newborns, swollen and thick “cauliflower” ears
• a floppy airway
• joint pain, stiffness, or dislocation (out of socket)

People with diastrophic dysplasia can have problems with their bones, such as a curved spine; short, fused (joined) fingers; knock-knees; and clubfoot.

Diastrophic dysplasia does not affect thinking and learning abilities. But some kids may take longer to learn to sit, crawl, and walk compared with other kids.

What Causes Diastrophic Dysplasia?

Diastrophic dysplasia happens because of a gene change (mutation). When both parents have the changed gene, their child can inherit one from each of them. Children who get only one gene from one parent don’t have symptoms, but can pass the changed gene to their children.

Rarely, a child with the condition inherited one changed gene from a parent while the other changed gene happened spontaneously (is a new mutation).

A genetic counselor can help families understand how the condition can run in families.

How Is Diastrophic Dysplasia Diagnosed?

If a prenatal ultrasound shows that a baby has short arms and legs and other signs of diastrophic dysplasia like clubfeet, doctors usually recommend prenatal genetic testing (through amniocentesis) to confirm the diagnosis. Doctors also might do an amniocentesis or chorionic villus sampling (CVS) if there’s a family history of the condition.

Sometimes doctors diagnose it at birth or early in childhood. If a child is shorter than other kids the same age, and has short arms and legs, doctors can do tests to find the cause. These can include an exam, X-rays, and genetic testing.

How Is Diastrophic Dysplasia Treated?

A team of specialists cares for people with diastrophic dysplasia. They can include:

• an orthopedic surgeon: for bone and joint problems
• a neurologist/neurosurgeon: for spinal cord problems
• a genetics doctor: to help families understand the genetic changes and to plan for future medical care
• a plastic surgeon: to help if there is a cleft palate
• a pulmonologist: for any breathing problems
• a pediatrician: for routine care
• a physical therapist: for help with muscle strength and joint motion
• an occupational therapist: for help with writing, eating, and other everyday activities
• a speech therapist: for help if there is a cleft palate

How Can Parents Help?

To help your child:

• Treat your child according to their age, not their size, and encourage others to do the same.
• Talk about diastrophic dysplasia as a difference rather than a problem. Your attitude can help your child develop good self-esteem.
• Find ways to adapt. For example, get a light switch extender and a stepstool so your child can turn the lights on and off. Encourage your child’s school to make similar changes, such as lower chairs and/or feet support.
• Answer questions as simply as possible. If someone asks why your child is short, for example, say, “Emma is shorter because her bones grow differently.” Then, mention something special about your child. For example, “Nothing holds Emma back. She loves musicals and we really enjoy seeing shows together.” This shows your child that many things make them special.
• Teach your child that being teased or bullied is not OK. If your child is teased or bullied at school, work with your child, teachers, and administrators to end it.
• Encourage your child to find a hobby or activity to enjoy. Help your child try different things like music, art, computers, writing, and photography. Be sure to check with your doctor about any sports your child should avoid.

To help your child learn healthy habits now:

• Go to all doctor visits.
• Prepare healthy meals with lots of fresh fruits and vegetables.
• Get plenty of physical activity together as a family. Choose an activity that your child can do.

What Else Should I Know?

Children growing up with diastrophic dysplasia can thrive with the support of family and friends. Talk to anyone on the care team or a hospital social worker about resources that can help you and your child.

Support groups can be helpful for them and their families. Ask the care team for recommendations. You also can find support and more information online at:

• Little People of America
• NORD