Living with Craniometaphyseal dysplasia, autosomal dominant
A rare inherited bone condition in which skull and facial bones keep thickening, which can affect teeth, vision, and hearing.
Understanding Craniometaphyseal dysplasia, autosomal dominant
It causes a wide nasal bridge, fullness near the nose, wide-set eyes, and a prominent jaw. Teeth can come in late or not at all. The thickening continues throughout life and can narrow the openings in the skull, including the large one at its base. If untreated, pressure on cranial nerves can lead to facial paralysis, blindness, or deafness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skull bones
- Wide nasal bridge and prominent forehead
- Wide-set eyes
- Delayed teeth coming in
- Bad bite and dental crowding
- Facial paralysis (facial palsy)
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 Children's 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
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: cmdd
Patient organizations
- Children's Craniofacial AssociationCraniometaphyseal dysplasia, autosomal dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniometaphyseal dysplasia, autosomal dominant.
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