Cleidocranial Dysplasia (CCD)
Other names: CLCD; Cleidocranial dysostosis; Dysplasia cleidocranial; Marie-Sainton disease.
What is CCD?
Cleidocranial Dysplasia (CCD) is a rare genetic condition that affects the development of bones and teeth. Individuals with CCD may have underdeveloped bones of the skull, resulting in a distinctive appearance characterized by a prominent forehead and a broad, flat skull. The fontanels (spaces between the bones of an infant’s skull where the bones have not yet fused together) may remain open longer than usual in affected individuals. CCD can also affect the development of teeth, resulting in delayed or incomplete eruption of teeth. When teeth appear, they may also be misshapen, crowded, or not properly aligned. Individuals with CCD may also have underdeveloped or missing collarbones, short stature, abnormal curvature of the spine, osteopenia or osteoporosis, and joints that are hypermobile or which may dislocate easily.
CCD is caused by mutations in the RUNX2 gene, which plays an important role in the development of bones and teeth. CCD is inherited in an autosomal dominant pattern, which means that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition.
Treatment may include a combination of orthodontic and surgical interventions to correct the dental and skeletal anomalies. Early diagnosis and intervention can improve the overall quality of life for individuals with CCD. Genetic counseling may also be recommended for individuals and families affected by CCD.
myFace Provides Support for People Living with CCD and Other Craniofacial Conditions
myFace provides a variety of direct services and educational programs to help meet the needs of the craniofacial community, including:
(1) myFace Virtual Support Groups provide counsel and community for individuals and their families living with facial differences. These help participants to feel safe, supported, and never alone. myFace offers Support Groups for adults, adolescents, and both English-speaking and Spanish-speaking parents.
(2) Parent Guides provide resources and guidance to assist parents as they support their child’s journey.
(3) Transforming Lives Webinar Series offers webinars with craniofacial experts on topics of interest to the community.
(4) myFace, myStory Podcast Series offers monthly interviews and roundtable discussions on topics of interest to the craniofacial community.
(5) myFace’s Guide to Craniofacial Surgeries serves as a guide to patients’ surgical experience, providing in-depth information on some of the most common craniofacial surgeries.
(6) myFace | Your Impact Newsletter provides the community with regular updates.
(7) myFace Family Apartments provide free housing for out-of-town families seeking treatment in New York City.
(8) myFace Wonder Project School Assemblies provides students with the tools they need to unite against bullying and to implement acts of kindness in their schools and in their communities.
(9) myFace Events provide opportunities for the craniofacial community to gather together.
- Genetic and Rare Disease Information Center. (2023). Cleidocranial Dysplasia. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia