Living with Craniometaphyseal dysplasia
A rare bone condition in which skull and facial bones keep thickening, and the ends of long bones are wider than usual.
Understanding Craniometaphyseal dysplasia
The abnormal bone growth continues throughout life. Bone overgrowth in the head causes distinctive facial features, such as a wide nasal bridge, a prominent forehead, wide-set eyes, and a prominent jaw. It can delay teething or leave teeth that do not come in. Infants may have breathing or feeding problems from narrow nasal passages. In severe cases, bone can press on cranial nerves, causing facial paralysis, blindness, or deafness. There are two types, autosomal dominant and autosomal recessive.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrowth of skull and facial bones
- Wide nasal bridge
- Wide-set eyes (hypertelorism)
- Wider, less dense ends of long bones
- Delayed or missing teeth
- Breathing or feeding problems in infants
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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
GARD says changes in genes cause this condition. There are two types, which differ in inheritance and genetic cause: autosomal dominant (one changed copy is enough) and autosomal recessive (a changed copy from each parent).
Also known as: craniometadiaphyseal dysplasia
Patient organizations
- FACES: The National Craniofacial AssociationCraniometaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniometaphyseal dysplasia.
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