Ehlers-Danlos syndrome and osteogenesis imperfecta
The collagen disorders a physician meets in adults. The 2017 EDS classification, hypermobile EDS versus hypermobility spectrum disorder, vascular EDS (COL3A1) and why it changes procedures and pregnancy, and osteogenesis imperfecta with blue sclerae, deafness and fractures that bisphosphonates and anabolics don't clearly prevent in adults.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Both are inherited defects of collagen or the enzymes that process it.
- Ehlers-Danlos syndromes (EDS): 13 types in the 2017 international classification. Hypermobile EDS is by far the commonest and has no known gene. Vascular EDS is rare and lethal.
- Osteogenesis imperfecta (OI): bone fragility from type I collagen defects, with blue sclerae, hearing loss and dentinogenesis imperfecta.
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Sources
- Malfait F et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017;175:8-26International Consortium on the Ehlers-Danlos Syndromes, 2017 (current published classification as of November 2026; hEDS criteria under review)
- Ong KT et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial (BBEST). Lancet 2010;376:1476-84The Lancet, 2010
- Hald JD et al. Teriparatide plus zoledronic acid for osteogenesis imperfecta: a randomized clinical trial (TOPaZ). JAMA 2026;336:116-24JAMA, 2026
- Folkestad L et al. Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique. J Bone Miner Res 2025Journal of Bone and Mineral Research, 2025
- Marini JC et al. Osteogenesis imperfecta. Nat Rev Dis Primers 2017;3:17052Nature Reviews Disease Primers, 2017
- Dwan K et al. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2016;10:CD005088Cochrane, 2016
- De Backer J et al. 2025 ESC Guidelines for the management of cardiovascular disease and pregnancy. Eur Heart J 2025;46:4462-4568European Society of Cardiology, 2025 (vascular EDS listed as mWHO class IV)
- Therapeutic Guidelines: Bone and Metabolism (osteoporosis and secondary causes)AU/NZTherapeutic Guidelines Limited (eTG complete), current online version, accessed November 2026
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback