Marfan syndrome

Baby with Down syndromeMarfan syndrome (also called Marfan’s syndrome) is a genetic disorder caused by the misfolding of the protein fibrillin-1. Fibrillin-1 is coded by the gene FBN1. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. It is named after Antoine Marfan, the French pediatrician who first described the condition in 1896. The gene linked to the disease was first identified by Hal Dietz and Francesco Ramirez in 1991.

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