Campomelic Dysplasia

What is campomelic dysplasia?

Campomelic dysplasia, sometimes called camptomelic dysplasia, is a rare genetic disorder that affects the airway, lungs, bones and reproductive organs. Campomelic dysplasia causes many symptoms, like severe spine deformities, bending (bowing) of the leg bones, hip dislocations and club feet.

The most serious symptom for babies with campomelic dysplasia is difficulty breathing. These babies have an unusually small chest and ribcage, which restricts lung growth. They also have weakened cartilage in their windpipes, which can partially block the airway.

What is the life expectancy for campomelic dysplasia?

Babies with campomelic dysplasia have a higher risk of stillbirth, and the condition can be life-threatening for newborns because the lungs are so small. Children with campomelic dysplasia can survive into adolescence and adulthood but often need ongoing intensive treatment and support.

What causes campomelic dysplasia?

A genetic change (mutation) in or near the SOX9 gene causes campomelic dysplasia. This gene is important for forming cartilage — a strong flexible tissue that supports and cushions bones — and in sexual development. Campomelic dysplasia prevents normal bone and cartilage growth in many parts of a baby’s body, causing serious health conditions.

Rarely, children inherit campomelic dysplasia from a parent. Usually, the gene change that causes campomelic dysplasia happens randomly at conception and is a new genetic change in the child.

What are the signs and symptoms of campomelic dysplasia?

Healthcare providers might see campomelic dysplasia symptoms before or after birth.

Campomelic dysplasia symptoms before birth

Doctors may notice signs of campomelic dysplasia on your baby’s prenatal ultrasound, including:

• Bowed (curved) bones, usually in the legs
• Clubfoot (feet that turn inward and upward)
• Extra amniotic fluid (fluid that surrounds and protects your baby in the pregnant parent’s uterus)
• Fluid buildup in the brain (hydrocephalus)
• Short limbs or small body size
• Small, underdeveloped jaw

Campomelic dysplasia symptoms after birth

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

Airway and lungs

Campomelic dysplasia can prevent normal bone and cartilage growth in a child’s chest, windpipe and voice box. This can cause:

• Underdeveloped lungs because of the baby’s small chest and ribcage
• Weak cartilage in the windpipe and voice box, which can block the airway and cause severe breathing difficulty (sometimes called a floppy airway)

Arms and legs

When a child’s bones and cartilage don’t develop properly in their arms and legs, it can cause these symptoms:

• Bowing or bending of the long bones in the legs and arms
• Clubfoot in one or both feet
• Narrow bones in part of the pelvis
• Unstable hip joints that easily dislocate
• Unusually short arms and legs

Face and head

Campomelic dysplasia can prevent normal bone and cartilage growth in a child’s face or head, including:

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

Neck, chest and back

When campomelic dysplasia disrupts a child’s bone and cartilage growth in their neck, chest or back, they can have these symptoms:

• Curved bones in the neck and spine
• Missing one pair of ribs
• Missing or underdeveloped shoulder blades
• Narrow, bell-shaped chest
• Short trunk
• Neck instability, which can cause pressure on the spinal cord
• Progression of scoliosis

Reproductive system

Campomelic dysplasia can prevent normal sexual development, causing these symptoms:

• Genitals that don’t look typically male or female (ambiguous genitalia)
• Genitals that don’t match the baby’s genetic sex (the baby is a boy but has the genitals of a girl)

Other symptoms:

Campomelic dysplasia can also cause:

• Heart problems in about 25% of cases
• Short stature (height)

How do we diagnose campomelic dysplasia?

Sometimes, your doctor may see signs of campomelic dysplasia on a prenatal ultrasound. Our genetic counselors and care team in the Colorado Fetal Care Center can help determine if other tests are helpful, such as:

• Amniocentesis: This test detects genetic disorders like campomelic dysplasia. A doctor inserts a thin needle through the pregnant parent’s belly into their uterus to get a small sample of amniotic fluid.
• Chorionic villus sampling (CVS): This test also can detect genetic disorders. A doctor takes a small sample of tissue from the placenta (organ inside the uterus that nourishes the baby). We may take the sample with a needle inserted through the pregnant parent’s belly or a thin tube through their vagina and cervix.

After birth, our doctors will diagnose campomelic dysplasia based on your baby’s:

• Genetic testing results
• Medical history
• Signs and symptoms during a physical exam
• X-rays of their entire body to look for bone problems

How do we treat campomelic dysplasia?

When your baby is born, we may quickly place them on a ventilator to help them breathe better. Our neonatal and pediatric specialists use various treatments to help manage your baby’s symptoms and prevent complications. Your care team will discuss your child’s care options with you.

Babies and children with campomelic dysplasia need ongoing advanced care to improve their quality of life and prevent complications. Our Skeletal Dysplasia Program will be your child’s medical home and our experts will connect you with any other specialists your child should see. For the first few years, many babies need a breathing tube in their neck (tracheostomy) to help them breathe. Your child may also need:

• Cleft palate treatment
• Head or face surgery
• Physical therapy, occupational therapy or speech-language therapy
• Respiratory care
• Spinal surgery to relieve spinal cord pressure
• Surgery for the urinary system (urologic surgery)
• Surgery to correct clubfeet, straighten legs or treat hip dislocations
• Ultrasound to check for heart problems

In the first months of life, our Neonatal Palliative Care Program also provides comfort care to relieve pain, provide support and keep you and your baby as comfortable as possible.

Why choose us for treatment of campomelic dysplasia?

At Children’s Hospital Colorado, we guide and support your family with expertise and compassion. Few children’s hospitals in the country have our experience in caring for rare conditions like campomelic dysplasia. From your very first appointment, you’ll get:

• Complete care before and after birth: Our Colorado Fetal Care Center and Neonatal Intensive Care Unit will provide you with all the care options available and compassion for your whole family.
• Prenatal counseling and ongoing mental health support: We have specialized mental health experts with training and experience in the unique challenges of rare condition care.
• One of the nation’s leading skeletal dysplasia programs: Our Skeletal Dysplasia Program is among the most experienced and specialized programs in the country for caring for babies with campomelic dysplasia.
• Expert care from our nationally recognized Breathing Institute: We’re the largest program in the region (more than 150 breathing experts), rated No. 4 in the nation by U.S. News & World Report.
• Comfort care through our Neonatal Palliative Care Program: As a Level IV NICU, we have extensive experience caring for babies with serious illnesses, so we know how to help keep you and your baby as comfortable as possible.
• Specialists with a thorough understanding of this rare disorder: We’re a Rare Disease Center of Excellence with the highest level of expertise to treat campomelic dysplasia.

  

Helpful resources

• Little People of America
• 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 
  • Caregiver Respite Program 

Frequently asked questions

Could we have another baby with campomelic dysplasia?

It’s very unlikely. If neither parent has the condition, the risk of your other children having campomelic dysplasia is less than 1% to 2%.

Did we do anything to cause campomelic dysplasia in our baby?

No, nothing either parent does can cause campomelic dysplasia. A few children may inherit the gene mutation that causes campomelic dysplasia from a parent who also has the condition. But most of the time a random gene change in the egg or sperm at conception causes campomelic dysplasia.