How do I know if I have Cleidocranial Dysplasia?

Cleidocranial dysplasia is a rare genetic condition primarily affecting the development of bones and teeth, often characterized by absent or underdeveloped collarbones and delayed closure of the skull's soft spots. If you suspect you have cleidocranial dysplasia, look for patterns such as a persistent open fontanelle (soft spot) in adulthood, supernumerary (extra) teeth, or the ability to bring your shoulders together in front of your chest.

What are the primary indicators of cleidocranial dysplasia?

The clinical presentation of cleidocranial dysplasia varies significantly, even among family members. Key physical signs often include a short stature, a prominent forehead, and a high-arched palate. Because cleidocranial dysplasia impacts skeletal maturation, many individuals first discover the condition through dental complications, such as the failure of baby teeth to fall out or the inability of permanent teeth to erupt properly.

How can I perform a preliminary self-assessment?

When observing your own health, consider if you notice these common manifestations of cleidocranial dysplasia:

• Hypermobility of the shoulders (the ability to bring shoulders toward the midline).


• Delayed eruption of permanent teeth or an excessive number of teeth.


• A persistent "soft spot" or depression on the top of the head into adulthood.


• A wider-than-average pelvic girdle or frequent gait irregularities.

When should I consult a physician?

If you suspect cleidocranial dysplasia, consult a clinical geneticist or an oral and maxillofacial surgeon. When speaking to your doctor, provide a detailed family history, as cleidocranial dysplasia is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it to offspring. Ask specifically about a molecular genetic test for the RUNX2 gene, which is the only gene currently known to be associated with cleidocranial dysplasia.

Next steps

• Request a referral to a geneticist or an orthodontist specializing in craniofacial anomalies.


• Document your medical history, specifically any childhood dental delays or skeletal issues.


• Connect with the 89 members of the DiseaseMaps.org cleidocranial dysplasia community to share experiences and find emotional support.


• If dismissed, ask for a second opinion from a physician at a university-affiliated hospital or a rare disease center.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Cleidocranial dysplasia.


• Orphanet: Cleidocranial dysplasia (ORPHA:205).


• OMIM (Online Mendelian Inheritance in Man): Cleidocranial Dysplasia; CCD (Entry #119600).


• Cleidocranial Dysplasia Foundation: Patient resources and clinical guidelines.