Living with Craniometadiaphyseal dysplasia wormian bone type
An extremely rare bone condition with a large head, facial bone differences, and a higher chance of broken bones.
Understanding Craniometadiaphyseal dysplasia wormian bone type
Features include a large head, a prominent forehead, underdeveloped cheekbones, a prominent jaw, and underdeveloped teeth. Long bones have an abnormal shape, and there are many extra small bones (wormian bones) in the skull. The chest, pelvis, and elbows can be deformed. There is a higher risk of fractures. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head (macrocephaly)
- Extra small bones in the skull (wormian bones)
- Abnormal long bone shape
- Bulging eyes (proptosis)
- Small lower jaw (micrognathia)
- Weak bones with a higher chance of fractures
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 rare disease patient organizations for support
- 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 recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: craniometadiaphyseal dysplasia, wormian bone type; crmdd; schwartz-lelek syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniometadiaphyseal dysplasia wormian bone type.
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