Cleidocranial Dysplasia: Causes, Symptoms & Treatment

Cleidocranial dysplasia is a genetic condition that affects the growth of the skull, face, teeth, hands and other bones in the body. It’s not life-threatening, does not affect a child’s intelligence and leads to a positive prognosis with treatment to address the symptoms.

What is cleidocranial dysplasia?

Cleidocranial dysplasia is a genetic condition caused by abnormal growth and development of certain parts of the skeletal system, including the skull, bones and teeth. People diagnosed with cleidocranial dysplasia may have distinct physical characteristics like underdeveloped collarbones, short stature, unique facial characteristics and delayed tooth development.

Who does cleidocranial dysplasia affect?

Cleidocranial dysplasia can affect any child who inherits a mutated gene from their parents in an autosomal dominant pattern. This occurs when one copy of the gene passes to the child from their parent during fertilization. If a parent has the mutated gene, there’s a 50% chance that they will pass that gene on to their child if they become pregnant. The genetic mutation can also happen sporadically or randomly (de novo), without a history in your biological family.

How common is cleidocranial dysplasia?

Cleidocranial dysplasia is a rare condition that occurs once out of every one million births.

Symptoms and Causes

What are the symptoms of cleidocranial dysplasia?

Symptoms of cleidocranial dysplasia vary from each person diagnosed with the condition. Some people have fewer symptoms than others and symptoms range in severity. Cleidocranial dysplasia doesn’t affect your child’s intelligence or cognitive development. The most common symptoms of cleidocranial dysplasia include:

• Delayed closing of the soft spots on the skull (fontanelles) and connecting joints of the skull (sutures).
• Underdeveloped or missing collarbones (clavicles).
• Permanent teeth emerging late, failure to lose primary teeth, extra teeth and dental crowding and abnormal alignment of the teeth (malocclusion).

Additional symptoms of cleidocranial dysplasia could affect your child’s physical development, including:

• Problems with the upper airway, such as obstructive sleep apnea.
• Curved spine (scoliosis).
• Irregular bone growth in the hands.
• Short stature or delayed growth.
• Delay in motor skills (grabbing objects, walking, climbing).
• Frequent sinus and ear infections.
• Frequent ear infections can cause hearing loss.
• Weak bone density (osteopenia or osteoporosis).

If a parent has cleidocranial dysplasia, their symptoms could be different from their child who has the same condition.

What causes cleidocranial dysplasia?

A mutation of the RUNX2 gene causes cleidocranial dysplasia. This can happen randomly (de novo) or you can inherit it from your biological parents.

In your body, you have 46 chromosomes that divide into 23 pairs of two. Chromosomes carry DNA in the nucleus of cells, which works as an instruction manual to tell your body how to form and function. Genes are segments of your DNA that are chapters in your body’s instruction manual. Each chromosome contains several genes.

You receive one chromosome from each of your parents to form a pair. When cells form in reproductive organs via one fertilized cell from sperm in males and eggs in females, the cells divide and copy themselves with half the amount of DNA as the original cell (23 chromosomes from 46) and each chromosome pair has a number to identify it.

When you inherit genes from your parents, you receive two copies of each gene. Cleidocranial dysplasia is an autosomal dominant condition, which means that only one parent needs to have the gene in a numbered chromosome for the child to inherit it.

Sometimes the genetic mutation of the RUNX2 gene occurs randomly, without being present in a person’s family history (de novo).

If a parent has the gene that causes cleidocranial dysplasia, there’s a 50% chance that the child will inherit the condition.

Diagnosis and Tests

How is cleidocranial dysplasia diagnosed?

Diagnosis of cleidocranial dysplasia occurs after your child is born. Your healthcare provider will examine your child for symptoms of the condition and offer tests to confirm the diagnosis.

What tests diagnose cleidocranial dysplasia?

Tests to diagnose cleidocranial dysplasia include:

• Dental X-ray.
• X-ray of the bones, especially in the skull, collarbone and hands.
• Genetic testing.

Imaging tests, like X-rays, will allow your healthcare provider to examine the symptoms of the condition and offer a personalized treatment plan.

A genetic test confirms the diagnosis. To complete a genetic test, your healthcare provider will take a small sample of your child’s blood and a lab technician will examine the sample for any changes in your child’s DNA, chromosomes or proteins, which are signs of a genetic condition. The genetic test can pinpoint which gene has a mutation.

Management and Treatment

How is cleidocranial dysplasia treated?

Treatment for cleidocranial dysplasia focuses on alleviating symptoms of the condition. There’s no cure for cleidocranial dysplasia. Treatment is unique for each diagnosis and could include:

• Dental maintenance, orthodontic care or dental surgery.
• Surgery to correct any bone growth symptoms.
• Craniofacial surgery to repair any symptoms of the bones in the skull and face.
• Wearing headgear or a helmet until the skull bones close.
• Speech therapy.
• Ear tubes.
• Wearing hearing aids.
• Calcium and vitamin D supplementation.
• Surgery for upper airway obstruction (sleep apnea).

Prevention

How can I reduce my risk of cleidocranial dysplasia?

Cleidocranial dysplasia is the result of a genetic mutation and there’s no way to prevent it. If you plan on becoming pregnant and want to understand the risks of having a child with a genetic condition, talk with your healthcare provider about genetic testing.

Outlook / Prognosis

What can I expect if I have a child with cleidocranial dysplasia?

People diagnosed with cleidocranial dysplasia have a good prognosis. Treatment addresses symptoms of the condition and your healthcare provider will immediately treat any symptoms that are severe after your child is born, including surgery to repair underdeveloped bones or surgery to open airways. Long-term dental treatment is necessary to make sure teeth develop and form in a way that won’t cause pain or discomfort. Your healthcare provider will create a unique treatment plan that targets your child’s symptoms to allow them to live a full and healthy life.

Living With

When should I see my healthcare provider?

If you notice any symptoms of cleidocranial dysplasia that disrupt your child’s ability to thrive, contact your healthcare provider. Symptoms include:

• Feeling pain or discomfort in their mouth or teeth.
• Getting frequent sinus or ear infections.
• Having trouble hearing or responding to basic commands.
• Missing developmental milestones during childhood.
• Pauses in breathing at night or feeling tired during the day.

If your child has trouble breathing, visit your emergency room immediately or call 911.

What questions should I ask my doctor?

• Will my child need dental surgery if their teeth don’t erupt?
• What should I do if my child misses developmental milestones?
• What are my chances of having a child with a genetic condition?

Additional Common Questions

Are there any famous actors with cleidocranial dysplasia?

Gaten Matarazzo, most often known for his role as Dustin Henderson on the hit Netflix series Stranger Things, shared that he has a cleidocranial dysplasia diagnosis. Matarazzo told the organization Cleidocranial Dysplasia Smiles that his diagnosis jumpstarted his career in acting and he is very fortunate to have a mild case. He uses his platform to advocate for children diagnosed with cleidocranial dysplasia, brings awareness of the condition and works to eliminate the stigma of having a genetic condition.