What is Chondrodysplasia?

The term “chondrodysplasia” includes a number of conditions that are caused by changes in the genes. They’re often linked to dwarfism, which stunts the growth of many parts of the body, especially the bones. Doctors usually diagnose it in babies.

People with some types of chondrodysplasia are able to lead normal lives with few limitations, if any. Other types can cause both physical and mental disabilities.

One of the most common types -- achondroplasia -- usually has very few limitations, except perhaps some physical ones. Most people can live a full life with it. Actor Peter Dinklage, who plays Tyrion Lannister in the HBO series “Game of Thrones,” was born with achondroplasia.

At the other end of the spectrum are severe and painful forms of chondrodysplasia, such as rhizomelic chondrodysplasia punctata (RCDP1). This condition stunts growth in babies, causing bone problems, mental disabilities, and cataracts. Most people with it don’t live past childhood. But there is hope. Researchers are working on possible treatments from RCDP1, although they are still in the early stages.

Causes

Chondrodysplasias are genetic, which means they happen because of problems in genes. A child might inherit these gene flaws from parents. That’s the case with RCDP1.

Achondroplasia usually happens due to a mutation in a certain gene, which a child could inherit. But more often, it happens randomly.

Symptoms

Beyond a person’s physical appearance -- such as short stature and a large head -- symptoms depend on what type of chondrodysplasia someone has. Some may have mental disabilities because of problems with brain development. But others do not.

With other forms of chondrodysplasia, symptoms can include rough and scaly skin, a cleft palate, and deformities of the spinal cord. Some children develop cataracts, causing poor vision.

Diagnosis

Usually, a doctor would notice chondrodysplasia when a baby is born. The hallmarks of the condition, such as short limbs and a large head, are easy to spot. X-rays could show that the bones in the child’s arms and legs are unusually short in length and broad in width. A number of measurements of the bones in X-ray images will show they are abnormal in size.

Doctors can usually also diagnose achondroplasia using ultrasound while the baby is still in the womb. There is also a genetic test that can confirm the diagnosis.

Treatment

Your child’s treatment will depend upon what type of chondrodysplasia they have. Most treatments don't increase your child’s height, but they could relieve other problems.

If your baby has achondroplasia and is healthy, you might only need to keep in touch with your pediatrician to make sure your child is doing well and address any complications along the way.

If your child has a severe form, you’ll work with a number of specialists, from physical therapists to nutritionists, and a lot of that care may happen at a hospital.

In some rare cases, growth hormones have helped with bone development in people with chondrodysplasia, but it’s not a guaranteed treatment. Growth hormones don’t cure achondroplasia, and in many cases patients do not respond to any form of drugs.

Some people with dwarfism may choose to have extended limb lengthening. This surgery is controversial because there are risks and it can be painful. Many times, the child only gains a few inches of height. Surgeons re-cut the limbs to “stretch” the bones, and braces hold the bones in place. A successful treatment may take several surgeries. Because the procedures can be physically and emotionally stressful, doctors recommend holding off on the surgery until the person is old enough to decide for themselves.

Complications

Most forms of chondrodysplasia aren’t life-threatening. But there can be painful and long-term problems with breathing, as well as:

• Back pain
• Curvature of the spine
• Spinal stenosis
• Issues with the joints
• Lung infections
• Seizures
• Sleep apnea

Doctors will work with you to treat and manage these.

Support

You may want to reach out to a support group for families of people with chondrodysplasia. These groups are designed to share information, hold meetings and raise money for a cure. Also, the Billy Barty Foundation has set up a scholarship fund to improve the quality of education for students who have achondroplasia.

Most people with chondrodysplasia prefer not to be singled out, but people tend to stereotype them. Children with these conditions often are bullied. It’s a good idea for you to seek counseling that helps your child handle the condition -- and helps others understand it.

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