Disease_Has_Molecular_Abnormality Disease_Mapped_To_Gene Pediatric Endocrinology Terminology Pediatric Rheumatology Terminology Cellosaurus Disease Terminology ACC/AHA Pediatric and Congenital Cardiology EHR Terminology FBN1 Gene Mutation Syndrome Marfan Syndrome Marfan Syndrome Marfan's Syndrome Cellosaurus ACC/AHA NICHD A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. Disease or Syndrome An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens. A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome. C0024796 C34807 Marfan_s_Syndrome Marfan Syndrome Marfan syndrome FBN1 Gene NICHD Terminology Hereditary Connective Tissue Disorder Neonatal Research Network Terminology