Connective Tissue Disorders

Last Updated: December 22, 2023 Introduction to Osteogenesis Imperfecta Osteogenesis imperfecta (OI: meaning imperfect bone formation) represents a heterogeneous group of disorders, the majority of which are the result of mutations that affect the structure and...

Last Updated: May 1, 2024 Introduction to the Ehlers-Danlos Syndromes Ehlers-Danlos syndrome (EDS) represents a heterogeneous group of generalized connective tissue disorders. The predominant forms of EDS result from defects in collagen synthesis and or processing as...

Last Updated: March 15, 2025 Introduction to Marfan Syndrome Marfan syndrome (MFS) is an autosomal dominant disorder affecting the connective tissue of numerous different organ systems. The characteristics of Marfan syndrome include flexible joints, long arms, legs,...