Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cleidocranial dysplasia (CCD) is primarily known by its official medical name, though it is historically referred to as Cleidocranial dysostosis. Patients may also encounter the condition under various eponyms or descriptive terms in older literature, all of which refer to the same genetic disorder characterized by impaired development of the collarbones and skull. What are the common synonyms and historical names for Cleidocranial Dysplasia? While Cleidocranial dysplasia is the currently preferred medical term, you may find the condition referred to by several other names in older medical journals or clinical records.
Cleidocranial Dysplasia synonyms
Other names for Cleidocranial Dysplasia: synonyms, acronyms and related terms used by doctors and patients.
Cleidocranial dysplasia (CCD) is primarily known by its official medical name, though it is historically referred to as Cleidocranial dysostosis. Patients may also encounter the condition under various eponyms or descriptive terms in older literature, all of which refer to the same genetic disorder characterized by impaired development of the collarbones and skull.
What are the common synonyms and historical names for Cleidocranial Dysplasia?
While Cleidocranial dysplasia is the currently preferred medical term, you may find the condition referred to by several other names in older medical journals or clinical records. These include:
- Cleidocranial dysostosis (the most common historical term)
- Marie and Sainton disease (an eponym named after the physicians who described it in 1897)
- Sainton-Marie syndrome
- Cleidocranial dysplasia syndrome
- CCD (the standard medical abbreviation)
Why does Cleidocranial Dysplasia have multiple names?
The variety of names for Cleidocranial dysplasia stems from early medical efforts to categorize the condition based on its physical presentation. The term "dysostosis" implies a defect in bone ossification, which was the prevailing theory in the late 19th century. However, modern genetic understanding has shifted the classification toward "dysplasia," as the condition is now recognized as a result of a mutation in the RUNX2 gene, which affects the development of various skeletal structures. Today, Cleidocranial dysplasia is the standard nomenclature used in the ICD-10/11, OMIM (entry #119600), and Orphanet (ORPHA:205) databases to ensure global clinical consistency.
Is the terminology consistent across international medical systems?
Yes, global medical institutions have moved toward standardized naming to improve patient care and research collaboration. While you might see "Cleidocranial dysostosis" in historical archives, doctors worldwide now use Cleidocranial dysplasia to align with international genetic classifications. At DiseaseMaps.org, we support this unified terminology to help our 89 community members with Cleidocranial dysplasia find consistent, peer-reviewed information regardless of their geographic location or the age of their medical records.
Next steps
- Review your genetic testing reports to ensure they reference RUNX2 mutations in relation to Cleidocranial dysplasia.
- Connect with the 89 other community members at DiseaseMaps.org who are navigating life with Cleidocranial dysplasia.
- Consult with a clinical geneticist to discuss how the terminology used in your records impacts your long-term care plan.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always consult with a qualified healthcare provider regarding any medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cleidocranial dysplasia.
- OMIM (Online Mendelian Inheritance in Man): Entry #119600 - Cleidocranial Dysplasia.
- Orphanet: Rare disease database, ORPHA:205.
- Cleidocranial Dysplasia Foundation (CCD Smiles).
