Cleidocranial Dysplasia

What is cleidocranial dysplasia?

Cleidocranial dysplasia (also called cleidocranial dysostosis) is a genetic condition that affects bones and teeth. Children with this condition often have dental problems like delayed tooth development or extra teeth and differences in the skull, facial bones and collarbones. Cleidocranial dysplasia doesn’t affect life expectancy or intellectual ability.

What causes cleidocranial dysplasia?

In about 70% of cases, a genetic change (mutation) in the RUNX2 gene is the clear cause of cleidocranial dysplasia. This gene is important for bone and tooth development.

In many cases, children inherit this genetic change from one of their parents. A person with cleidocranial dysplasia has a 50% chance of passing it on to their child. This type of inheritance is called autosomal dominant inheritance.

In other cases, the gene change that causes cleidocranial dysplasia happens randomly in either the egg or sperm before they meet at conception. When this happens for one child, parents have a very small (2% to 3%) chance of having another child with the condition.

What are the signs and symptoms of cleidocranial dysplasia?

Cleidocranial dysplasia has many possible signs and symptoms, mostly affecting the head, face, teeth and chest. Some people have more of these symptoms than others.

Symptoms affecting the head and face

Cleidocranial dysplasia prevents healthy bone development in the skull and facial bones, which can cause issues such as:

• Flat nose
• Large soft spots (fontanelles) in newborns that close later than typical or don’t close at all
• Narrow, high-arched or cleft palate (roof of the mouth)
• Prominent forehead
• Small lower jaw
• Underdeveloped cheekbones
• Widely spaced eyes

Symptoms affecting the teeth

Because cleidocranial dysplasia prevents healthy tooth development, children with this condition may have:

• Crowded, crooked teeth
• Delay in losing baby teeth or emerging adult teeth
• Extra teeth (supernumerary teeth)
• Thin tooth enamel that can cause tooth decay and frequent cavities

Symptoms affecting the chest and torso

Cleidocranial dysplasia can prevent healthy development of bones in the chest and torso, causing symptoms like:

Curved spine (scoliosis)

• Extra or missing ribs
• Narrow chest
• Rounded, sloping shoulders
• Small or missing collarbones

Other symptoms

Children with cleidocranial dysplasia can also have:

• Flat feet
• Frequent ear or sinus infections
• Knock knees or bowed legs
• Low bone density (osteopenia or osteoporosis)
• Mild developmental delays in motor skills, like crawling or walking
• Short fingers or toes
• Short stature (height)
• Sleep apnea

How do we diagnose cleidocranial dysplasia?

In most cases, our doctors diagnose cleidocranial dysplasia based on your child’s:

• Medical history
• Signs and symptoms seen during a physical exam
• X-rays of your child’s face, head, chest and teeth

In some cases, dentists may use a specialized X-ray called cone-beam computed tomography (CBCT). This method provides 3D images of the teeth that can help with more precise diagnosis and treatment.

Genetic testing can confirm a cleidocranial dysplasia diagnosis in 60% to 70% of children.

How do we treat cleidocranial dysplasia?

Every child’s situation is different, with unique symptoms, challenges and needs. Your care team will create an individual care plan just for your child.

Regular screenings may include:

• Dental exams to monitor tooth development
• DEXA scans every few years to check for osteoporosis
• Hearing tests to check for hearing loss

Treatment for cleidocranial dysplasia may include:

• Craniofacial surgery to fix issues of the face and head, like jaw surgery to correct bite issues or surgery to reshape the cheekbones
• Ear tubes to treat ear infections
• Hearing aids to address hearing loss from chronic ear infections
• Oral surgery to remove baby teeth, help permanent teeth grow or remove extra teeth
• Orthodontics, including braces, dental implants or other orthodontic devices
• Orthopedic surgery to address issues with bone growth, like underdeveloped or missing collarbones and ribs, scoliosis, or bowed legs
• Physical therapy to help improve mobility and strength
• Protective helmet until skull bones close
• Speech-language therapy to address speech issues from palate or jaw problems
• Vitamin supplements (calcium and vitamin D) to strengthen bones

Why choose us to treat cleidocranial dysplasia?

A team approach is critical for treating complex conditions like cleidocranial dysplasia. At Children’s Hospital Colorado, your child has access to comprehensive care from two multidisciplinary programs — the Skeletal Dysplasia Program and Craniofacial Program.

We offer the specialized expertise your child needs to address their unique challenges and help them thrive, including:

• One of the most advanced craniofacial programs in the country, with more than 1,000 surgeries performed and more than 30 years of experience
• Nationally recognized expertise, such as endorsement from the American Cleft Palate Craniofacial Association and designation as a Rare Disease Center of Excellence  
• Experienced, child-focused experts — including specialists in pediatric plastic surgery, pediatric dentistry and rehabilitation — working together to give your child the compassionate care they need to live an active and fulfilling life

What resources are available for cleidocranial dysplasia?

Several national organizations offer information, support and resources for people with cleidocranial dysplasia:

• CCD Smiles is a nonprofit organization that helps connect people and families affected by cleidocranial dysplasia to resources, education and raise awareness for this rare condition.  
• Children’s Craniofacial Association provides support for people with facial differences including medical and financial assistance, emotional wellbeing and education and awareness.
• FACES: The National Craniofacial Association helps caregivers of children with craniofacial differences with information, support and financial assistance to travel for life-changing surgeries.

What is the life expectancy for cleidocranial dysplasia?

People with cleidocranial dysplasia have about the same life expectancy as people without the condition.

Could I have another child with cleidocranial dysplasia?

There is a very low (2% to 3%) chance of having another child with cleidocranial dysplasia if neither parent has the condition. Your child has a 50% chance of inheriting the condition if either you or your partner has a RUNX2 gene change. Our genetic counselors can help you decide whether genetic testing makes sense for you and your family.