Campomelic Dysplasia

What are the signs and symptoms of campomelic dysplasia?

Signs of campomelic dysplasia may appear on a prenatal ultrasound of your baby, such as:

• Bowed (curved) bones, usually in the legs
• Limbs that don’t develop properly, such as clubfoot
• Small, underdeveloped jaw
• Short limbs or small body size
• Fluid buildup in the brain (hydrocephalus)
• Excess amniotic fluid (fluid that surrounds and protects your baby in your uterus), called polyhydramnios

After your baby is born, doctors may find similar or additional signs of campomelic dysplasia, affecting many areas of the body:

Lungs and airway

• Soft cartilage in the windpipe and voice box (laryngotracheomalacia), which can block the airway and cause severe breathing difficulty
• Underdeveloped lungs because of the small chest and ribcage

Reproductive system

• Ambiguous genitalia (external reproductive organs that are not clearly male or female)
• Both types of internal sex organs (ovaries and testes)
• Male chromosomes with female genitalia

Face and head

• Unusually large head
• Prominent forehead
• Flat facial features
• Cleft palate (opening in the roof of the mouth)

Neck, chest and back

• Missing or underdeveloped shoulder blades
• Underdeveloped spinal bones (vertebrae) in neck and upper back
• Short trunk
• Missing one pair of ribs (11 instead of 12)

Arms and legs

• Unusually short arms and legs
• Bowing of the long bones in the legs and sometimes the arms
• Clubfoot (feet that turn inward and upward)
• Narrow bones in part of the pelvis
• Unstable hip joints that easily dislocate

How do you diagnose campomelic dysplasia?

If your doctor suspects campomelic dysplasia based on a prenatal ultrasound, you’ll have additional tests during pregnancy. Our fetal genetic counselor will help you decide which test is most appropriate for your family. Prenatal tests that you and your baby may need include:

• Amniocentesis: Your doctor takes a small sample of amniotic fluid by inserting a thin needle through your belly into your uterus. This test detects chromosomal and genetic disorders like campomelic dysplasia.
• Chorionic villus sampling (CVS): Similar to amniocentesis, CVS can detect genetic and chromosomal disorders. Your doctor takes a small sample of tissue from the placenta (organ inside your uterus that nourishes your baby). We may take the sample with a needle inserted through your belly or a thin tube through your vagina and cervix. Learn more about amniocentesis, CVS and our other prenatal genetic testing.
• Fetal ultrasound: We carefully examine your fetus with a targeted, detailed ultrasound to look for signs of campomelic dysplasia.

After your baby is born, doctors diagnose campomelic dysplasia with:

• A physical exam
• X-rays of your baby’s entire body to evaluate bone problems
• Genetic testing on a small sample of your baby’s blood

How is campomelic dysplasia treated?

Unfortunately, we can’t treat babies before birth for campomelic dysplasia, and babies with the condition have a higher risk of stillbirth. Most babies with campomelic dysplasia survive less than one year after birth.

Newborns with campomelic dysplasia most often pass away from severe breathing difficulty because of laryngotracheomalacia, which is a weakened voice box and windpipe. When your baby is born, we quickly place them on a ventilator to help them breathe better.

Our neonatal and pediatric specialists care for your baby with treatments to manage symptoms and help prevent complications. Depending on your baby’s needs, they may have this treatment for laryngotracheomalacia at our Breathing Institute.

Babies who survive need advanced care to improve their quality of life and prevent complications. Care may include:

• Orthopedic treatments, including surgery
• Craniofacial surgery
• Respiratory care
• Urologic surgery

Why choose us for treatment of campomelic dysplasia?

Learning that your baby may have campomelic dysplasia is upsetting and may be overwhelming. At the Colorado Fetal Care Center, we understand the pain of this diagnosis and have the support services to help your family. We provide compassionate care to guide you through a difficult time.

After birth, we provide comfort care for you and your baby to relieve pain and other symptoms through our Neonatal Palliative Care Program. We also offer prenatal counseling and ongoing mental health support for parents and families.

Helpful resources

• National Institutes of Health, Genetic and Rare Diseases Information Center: Campomelic Dysplasia
• National Institutes of Health, U.S. National Library of Medicine: Campomelic Dysplasia
• National Organization for Rare Disorders: Campomelic Syndrome

Is campomelic dysplasia considered lethal?

Unfortunately, most babies who have campomelic dysplasia pass away as newborns or within their first year of life because of the severe breathing problems. Babies who do survive longer need intensive care to manage their symptoms and prevent complications. Babies with this condition also have a higher risk of stillbirth.

Could I have another child with campomelic dysplasia?

It’s unlikely; the risk of your other children having campomelic dysplasia is less than 1%.

Do I have to undergo amniocentesis or chorionic villus sampling before delivery?

No, you may not need to have an amniocentesis or CVS during pregnancy. However, the information can help your doctor plan your and your baby's care during pregnancy, delivery and afterward. Some families wait until after birth to do genetic testing.

Did I do anything to cause campomelic dysplasia in my baby?

No, nothing that a parent does can cause campomelic dysplasia. The condition results from mutations in or near the SOX9 gene. This gene affects the way the skeleton, reproductive system and other tissues form in a baby before birth.

Sometimes, these mutations are inherited. But most often, campomelic dysplasia results from random, new gene mutations that happen when the sperm cell and egg cell combine at conception.