Living with Cleidocranial dysostosis
A genetic condition mainly affecting bone and tooth development, with underdeveloped collarbones and a late-closing skull.
Understanding Cleidocranial dysostosis
Signs vary widely, even within a family. Collarbones are underdeveloped or absent, so the shoulders are narrow and sloping and can be brought close together. The skull bones close late, and the soft spots (fontanelles) may stay open for life. Some people have extra small bones (Wormian bones) in the skull. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped or absent collarbones
- Late-closing soft spots in the skull
- Dental differences
- Rib and hand bone differences
- Underdeveloped cheekbones
- Long-lasting middle ear infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in RUNX2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the RUNX2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: ccd - cleidocranial dysplasia; clcd - cleidocranial dysplasia; clcd1; cleidocranial dysplasia; cleidocranial dysplasia 1; craniocleidodysostosis
Patient organizations
- Little People of AmericaCleidocranial dysostosis · United States
- CCD SmilesCleidocranial dysostosis · United States
- Children's Craniofacial AssociationCleidocranial dysostosis · United States
- FACES: The National Craniofacial AssociationCleidocranial dysostosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Cleidocranial dysostosis.
Explore research for Cleidocranial dysostosis
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