What Is Ellis-Van Creveld Dysplasia?

Ellis-Van Creveld dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Ellis-Van Creveld dysplasia also can lead to heart and breathing problems.

With regular care from medical specialists, many children with Ellis-Van Creveld can live a full life.

What Are the Signs & Symptoms of Ellis-Van Creveld Dysplasia?

Symptoms of Ellis-Van Creveld dysplasia (dis-PLAY-zhuh) include:

• dwarfism (height less than 4 feet, 10 inches [145 cm] as an adult)
• congenital heart defects
• arms and legs that are much shorter than average
• teeth present at birth or appearing soon after birth
• small, often crooked teeth with a tendency to get cavities 
• a narrow chest with short ribs, which can lead to breathing problems
• extra fingers and toes
• very small fingernails and toenails
• knock-knees (knees curve in)
• undescended testicles

Ellis-Van Creveld dysplasia does not affect thinking and learning abilities.

What Causes Ellis-Van Creveld Dysplasia?

Ellis-Van Creveld dysplasia usually happens because of a gene change (mutation). A child inherits one gene change from their mother and one from their father.

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

How Is Ellis-Van Creveld Dysplasia Diagnosed?

A prenatal ultrasound might find Ellis-Van Creveld dysplasia if it shows that the baby has short arms and legs. Genetic testing (through amniocentesis) can confirm the diagnosis. Doctors also might do an amniocentesis if there’s a family history of the condition.

Some children are diagnosed at birth if they have short arms and legs, a narrow chest, and other signs of the condition. Doctors will do tests to confirm this, such as an exam, X-rays, and genetic testing. They’ll also order an echocardiogram (ultrasound scan of the heart) to look for heart problems.

How Is Ellis-Van Creveld Dysplasia Treated?

A team of medical specialists cares for people with Ellis-Van Creveld dysplasia. They can include:

• an orthopedic surgeon: to treat bone and joint problems
• a neurologist/neurosurgeon: for brain, spinal cord, and nerve problems
• a cardiologist: for heart problems
• a pulmonologist: for breathing and lung problems
• a urologist: for genital problems such as undescended testicles
• a dentist: to treat problems with the teeth
• a genetics doctor: to help families understand the genetic changes
• 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

How Can Parents Help?

Your child needs the support of family and friends. To help your child:

• Treat your child according to their age, not their size, and encourage others to do the same.
• Talk about Ellis-Van Creveld 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 that can help.
• Answer questions as simply as possible. If someone asks why your child is short, for example, say, “Henry is shorter because he has a problem with bone growth.” Then, mention something special about your child. For example, “Henry has many interests. You should see his music collection.” 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 sports, music, art, computers, writing, and photography. Be sure to check with your doctor about any sports your child should avoid.

What Else Should I Know?

Heart and breathing problems can affect how well kids with Ellis-Van Creveld dysplasia do. If the problems are treatable, they can live a full life. Regular medical care will help your child stay well. Talk to anyone on the care team or a hospital social worker about resources that can help you and your child.

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

• Little People of America
  
• NORD