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.
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.
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.
Cleidocranial dysplasia is a rare condition that occurs once out of every one million births.
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:
Additional symptoms of cleidocranial dysplasia could affect your child’s physical development, including:
If a parent has cleidocranial dysplasia, their symptoms could be different from their child who has the same condition.
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 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.
Tests to diagnose cleidocranial dysplasia include:
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.
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:
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.
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.
If you notice any symptoms of cleidocranial dysplasia that disrupt your child’s ability to thrive, contact your healthcare provider. Symptoms include:
If your child has trouble breathing, visit your emergency room immediately or call 911.
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.
A note from Cleveland Clinic
Children born with cleidocranial dysplasia have a positive prognosis and treatment alleviates symptoms of the condition to help your child live a fulfilling life. Your child will likely need to visit the dentist more regularly than their peers to make sure their teeth do not cause any discomfort as they grow into place. Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to assess your risk of having a child with a genetic condition.
Last reviewed by a Cleveland Clinic medical professional on 09/01/2022.
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