In this episode, we review key genetic connective tissue disorders that commonly appear in clinical practice and board-style exams: Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. We discuss how defects in connective tissue proteins lead to systemic structural weakness affecting the joints, bones, skin, and cardiovascular system. The episode highlights distinguishing clinical features such as joint hypermobility and skin fragility in Ehlers-Danlos syndrome, tall stature with aortic root dilation in Marfan syndrome, and recurrent fractures with blue sclera in osteogenesis imperfecta. We also review major complications, including vascular rupture in EDS, life-threatening aortic disease in Marfan syndrome, and severe bone fragility in OI, along with key management strategies and diagnostic clues to help differentiate these disorders in both clinical practice and exam scenarios.

References

1. Bushardt RL, Colomb-Lippa DM, Klinger AM, Reed H. The JAAPA QRS Review for PAs: Study Plan and Guide for PANCE and PANRE. 1st ed. LWW; 2021. ISBN: 9781975143817.
2. Marwa K, Anjum F. Undifferentiated Connective Tissue Disease. [Updated 2023 Apr 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK572061/
3. Ravi U, Sieg VC. Ehlers-Danlos Syndrome. [Updated 2023 May 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/
4. Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome Nat Rev Dis Primers. 2021; 7(1).