Campomelic Dysplasia
What Is Campomelic Dysplasia?
Campomelic dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow.
People with campomelic dysplasia (kam-poh-MEL-ik dis-PLAY-zhuh) usually have bent long bones and can have severe breathing problems.
Regular care from medical specialists can help babies with campomelic dysplasia get the care they need.
What Are the Signs & Symptoms of Campomelic Dysplasia?
Symptoms of campomelic dysplasia can include:
- short stature (height is less than that of most others of the same age)
- a floppy airway (from weak cartilage in the rings that hold open the windpipe). This can lead to severe breathing problems that might require a breathing tube.
- bent long bones
- prominent eyes
- cleft palate
- narrow, bell-shaped chest
- curved bones in the neck and spine
- clubfoot on one side or both
- congenital heart defects
Babies with campomelic dysplasia also can have problems with their genitals. The genitals may not look typically male or female (called ambiguous genitalia). Or the genitals might not match the genetic sex (the baby is a boy but has the genitals of a girl).
Some children with campomelic dysplasia will have slowed development and/or problems with thinking and learning.
What Causes Campomelic Dysplasia?
Campomelic dysplasia happens because of a gene change (mutation). In most children with the condition, the gene change is new and neither parent has campomelic dysplasia.
A genetic counselor can help families understand how the condition runs in families.
How Is Campomelic Dysplasia Diagnosed?
Campomelic dysplasia may be diagnosed before birth when:
- A prenatal ultrasound shows curved bone growth.
- A parent or a sibling has campomelic dysplasia and the doctor tests the fetus for the gene mutation.
It can be diagnosed after birth based on a child’s growth, physical features, X-ray results, and genetic testing.
How Is Campomelic Dysplasia Treated?
A team of specialists will care for a child when medical problems come up. 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 diagnosis and plan for future medical care
- a plastic surgeon: to help if there is a cleft palate
- a pulmonologist: for any breathing problems
- a nephrologist: for any kidney issues
- a cardiologist: for any heart issues
- an otolaryngologist: ear, nose, and throat (ENT) doctor to help with hearing problems
- an audiologist: for hearing testing and hearing aids
- 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?
Babies with campomelic dysplasia can have severe breathing problems. Some do not survive. Those who do need the help and support of family and friends.
To help your child:
- Go to all doctor visits and follow medical recommendations.
- 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.
- Treat your child according to their age, not their size, and encourage others to do the same.
- Answer questions from others as directly and simply as possible. If someone asks what is wrong, for example, say, “Ethan’s bones grow differently than yours.” Then, mention something special about your child. For example, “Ethan has lots of interests. You should see his Pokémon 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 activities like music, art, computers, writing, and photography.
What Else Should I Know?
Children with campomelic dysplasia need 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 kids and their families. Ask the care team for recommendations. You also can find support and more information online at:
Reviewed by: Amy W. Anzilotti, MD
Date Reviewed: Oct 1, 2022
