Marfan’s syndrome /märfäNz″/ [Bernard-Jean A. Marfan, French pediatrician, 1858–1942] , a hereditary condition that affects the musculoskeletal system and is often associated with abnormalities of the cardiovascular system and the eyes. Inherited as an autosomal-dominant trait, Marfan’s syndrome affects men and women equally. ▪ OBSERVATIONS: Its major musculoskeletal effects include muscular underdevelopment, ligamentous laxity, joint hypermobility, and bone elongation. The extremities of individuals with Marfan’s syndrome are very long and spiderlike, with arachnodactyly. Most adult patients are over 6 feet (1.8 meters) tall and have asymmetric skulls. Funnel chest is common, and a lateral curvature of the spine may develop and increase during years of rapid vertebral growth, with kyphoscoliosis developing to varying degrees. The severe ligamental laxity and joint hypermobility associated with Marfan’s syndrome may be seen by radiographic examination and often result in pes valgus and back knee. Pathological alterations of the cardiovascular system appear to produce fragmentation of the elastic fibers in the media of the aorta, which may lead to aneurysm. Ocular changes include a variety of disorders, including dislocation of the lens. Marfan’s syndrome does not affect intelligence. ▪ INTERVENTIONS: No specific treatment is available, and symptomatic management of the associated problems is the usual alternative. Resulting deformities, such as kyphoscoliosis, may be treated with orthoses or surgery, as indicated. ▪ PATIENT CARE CONSIDERATIONS: Health care professionals in schools are in a unique position to both identify students in need of an evaluation for Marfan’s syndrome and to ensure that students with the syndrome are engaged in appropriate physical and psychosocial activities. Although Marfan’s syndrome cannot be cured, with proper treatment and management a productive and satisfying life and career are possible.
