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Also known asACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
The FBN1 gene provides instructions for making a protein called fibrillin 1. This protein is a major component of microfibrils, which are thin, thread-like structures found in connective tissue. Microfibrils are an important part of the extracellular matrix (ECM), which provides support and strength to tissues and organs, and they also play a role in the development and maintenance of tissues.
Mutations in the FBN1 gene are a common cause of a group of inherited disorders called Marfan syndrome and related disorders. These disorders are characterized by problems with the connective tissue, which can affect the skeleton, eyes, heart and blood vessels, and other organs and systems. Symptoms of Marfan syndrome and related disorders can vary widely, but may include tall and thin stature, long arms, legs, and fingers, curved spine, and problems with the eyes, such as dislocated lenses. Treatment for Marfan syndrome and related disorders may include medications to manage heart and blood vessel problems, physical therapy, and surgery to repair damaged tissues or organs.