Living with Cleidocranial dysplasia, recessive form
A rare genetic bone condition, a severe form of cleidocranial dysplasia, with short stature and missing collarbones.
Understanding Cleidocranial dysplasia, recessive form
This severe form can cause a person to be shorter than average. Other symptoms may include absent collarbones, a flattened skull, and problems with the spine.
Signs & symptoms
Symptoms vary from person to person. GARD says they may include:
- Short stature
- Absent collarbones
- Flattened skull
- Spine problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: autosomal recessive form of cleidocranial dysostosis
Patient organizations
- Little People of AmericaCleidocranial dysplasia, recessive form · United States
- CCD SmilesCleidocranial dysplasia, recessive form · United States
You are more than your diagnosis
Perspectives from people navigating life with Cleidocranial dysplasia, recessive form.
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