Hereditary Connective Tissue Disorders

Hereditary connective tissue disorders are a heterogeneous group of genetic conditions caused by defects in collagen or elastin protein production or function. They are characterized by pathological fragility of the connective tissue that affects multiple organ systems, including musculoskeletal, cardiovascular, respiratory, ophthalmological, and cutaneous systems. The two most common disorders are Ehlers–Danlos syndrome and Marfan syndrome. The diagnosis is based on established clinical criteria and molecular genetic testing. There is currently no cure and only symptomatic treatment is possible. Genetic counseling for family members is recommended.