Living with Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
A very rare bone condition with repeated fractures, extra skull bones, tooth differences, and facial features.
Understanding Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Facial features include wide-set eyes and puffiness around the eyes. It looks much like osteogenesis imperfecta, but GARD says certain bone-edge defects without thin bones and without collagen changes set it apart. There have been no further descriptions in medical writing since 1999.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fractures without a clear injury
- Extra small skull bones (wormian bones)
- Tooth differences (dentinogenesis imperfecta)
- Short stature
- Wide-set eyes
- Puffiness around the eyes
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, genetic specialists and gum, teeth and mouth 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); Gum, teeth and mouth specialists (odontologists)
- 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 (variants) cause this condition. It doesn't name a gene or inheritance pattern.
Also known as: suarez-stickler 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 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia.
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