Living with Diaphyseal dysplasia
A bone condition, also called Camurati-Engelmann disease, in which bones of the arms, legs, and skull become thick.
Understanding Diaphyseal dysplasia
Thick limb bones can cause bone pain and muscle weakness, and people may tire quickly. Pain ranges from mild to severe. Leg weakness can make standing up hard and may cause a waddling or unsteady walk. A thick skull can lead to a larger head and jaw, a prominent forehead, and bulging eyes. GARD lists onset from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Muscle weakness in the arms and legs
- Thick bones in the arms and legs
- Thickened skull
- Waddling or unsteady walk
- Curved spine
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.
- 3Consider genetic testing
Changes in TGFB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the TGFB1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: camurati-engelmann disease; camurati-engelmann syndrome; camurati-englemann disease; diaphyseal sclerosis; engelman's disease; engelmann disease
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 Diaphyseal dysplasia.
Explore research for Diaphyseal dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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