Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Department of Pediatrics, Chief, Genetic Laboratory Services, Louisiana State University Medical Center
Synonyms and related keywords: Marfan's syndrome, Marfan disease, Marfan's disease, inherited connective tissue disorder, fibrillin-1 gene, FBN1 gene, ectopia lentis, mitral valve prolapse, mitral regurgitation, aortic root dilatation, aortic dissection, chronic aortic regurgitation, Ghent criteria, dural ectasia, ligamentous laxity, decrescendo diastolic murmur, ejection click,dysrhythmia, syncope, shock, pallor, pulselessness, paresthesia, low back pain, dyspnea, palpitations, pectus excavatum, pectus carinatum, spontaneous pneumothorax, lens dislocation, retinal detachment, myopia, amblyopia, dolichostenomelia, arachnodactyly, Walker sign, Steinberg sign, scoliosis, pes planus, protrusio acetabula, thoracic lordosis, joint hypermobility, highly arched palate, dental crowding, dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures, flat cornea, hypoplastic iris, hypoplastic ciliary muscle, glaucoma, calcification of mitral annulus, dilatation of abdominal aorta, dilatation of descending thoracic aorta, holosystolic murmur, apical blebs, Marfan syndrome, striae atrophicae, recurrent hernia, incisional hernia, TGF beta signalopathies, TGEÃ¢R1 gene, TGEÃ¢R2 gene, Loeys-Dietz aortic aneurysm syndrome
Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait. It is noteworthy for its worldwide distribution, relatively high prevalence, clinical variability, and pleiotropic manifestations, some of which are life threatening. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. About three quarters of patients have an affected parent; new mutations account for the remainder. Marfan syndrome is fully penetrant with marked interfamilial and intrafamilial variability.