Living with Craniodiaphyseal dysplasia, autosomal dominant
A rare genetic bone condition with heavy, thickened bones, especially in the skull and face, that can press on nerves.
Understanding Craniodiaphyseal dysplasia, autosomal dominant
The bone growth can be so severe that it distorts the face, a look called leontiasis ossea. Over time, the openings in the skull and face where nerves pass narrow (stenosis), which can lead to serious nerve problems in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Thick, hard bones, especially in the skull and face
- Changes in the shape of the face
- Narrowed openings for nerves in the skull
- Nerve problems in childhood
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 SOST gene, which makes a protein called sclerostin. GARD says it can be inherited in an autosomal dominant or recessive way.
Also known as: cdd
Patient organizations
- FACES: The National Craniofacial AssociationCraniodiaphyseal dysplasia, autosomal dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniodiaphyseal dysplasia, autosomal dominant.
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