Living with Craniometaphyseal dysplasia, autosomal recessive
A rare genetic bone condition with thickening skull bones and changes at the ends of the limb bones.
Understanding Craniometaphyseal dysplasia, autosomal recessive
The bone overgrowth in the head can lead to distinctive facial features, delayed tooth eruption, and pressure on cranial nerves.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened facial bones
- Flat nose
- Wide-set eyes (hypertelorism)
- Facial paralysis (facial palsy)
- Blocked nose
- Delayed permanent teeth
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 FACES: The National Craniofacial Association
- 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
It is caused by changes in the GJA1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive craniometaphyseal dysplasia; cmdr
Patient organizations
- FACES: The National Craniofacial AssociationCraniometaphyseal dysplasia, autosomal recessive · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniometaphyseal dysplasia, autosomal recessive.
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