Living with Ehlers-Danlos/osteogenesis imperfecta syndrome
A rare condition that combines the loose joints and stretchy skin of Ehlers-Danlos syndrome with the fragile bones of osteogenesis imperfecta.
Understanding Ehlers-Danlos/osteogenesis imperfecta syndrome
People have very flexible joints that dislocate, stretchy or see-through skin, and easy bruising. They always have mild signs of osteogenesis imperfecta, including short height, a blue tint to the whites of the eyes, and thin bones or fractures. Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Very flexible joints that dislocate
- Stretchy or see-through skin
- Easy bruising
- Short height
- Blue tint to the whites of the eyes
- Thin bones or 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 autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Ehlers-Danlos Society and Osteogenesis Imperfecta Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Ehlers-Danlos Society, Osteogenesis Imperfecta Foundation
- 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 Ehlers-Danlos Society and other patient organizations
- 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 a person's genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: eds/oi syndrome; ehlers-danlos and osteogenesis imperfecta syndrome
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos/osteogenesis imperfecta syndrome · United States
- Osteogenesis Imperfecta FoundationEhlers-Danlos/osteogenesis imperfecta syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos/osteogenesis imperfecta syndrome.
Explore research for Ehlers-Danlos/osteogenesis imperfecta syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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