Disease Information for Marfan's syndrome

Synonyms:

Marfan, Marfan Syndrome, MARFAN SYNDROME TYPE I, Marfan's disease, marfans syndrome, Marfan's syndrome, Marfan's syndrome (disorder), MFS, MFS1, Syndrome Marfan, Syndrome Marfan's

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Marfan, Marfan Syndrome, MARFAN SYNDROME TYPE I, Marfan's disease, marfans ... (more)

Definition:

A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast" It is inherited as an autosomal dominant trait;

Ferri clinical advisor: 759.82 Marfan’s syndrome; autosomal dominant syndrome Approximately 30% of cases are a new mutation; Skeleton; Joint hypermobility, tall stature, pectus excavatum, reduced thoracic kyphosis, scoliosis, arach-nodactyly, dolichosternomelia, pectus carinatum, and erosion of the lumbosacral vertebrae from dural ectasia; Eye;Myopia, retinal detachment, elongated globe, ectopia lentis; Cardiovascular : Mitral valve prolapse, endocarditis, dysrhythmia, dilated mitral annulus, mitral regurgitation, tricuspid valve prolapse, aortic regurgitation, aortic dissection,† dilation of the aortic root; Pulmonary: Apical blebs, spontaneous pneumothorax; Skin and integument- Inguinal hernias, incisional hernias, striae atrophicae; Central nervous system; Attention deficit disorder, hyperactivity, verbal-performance discrepancy, dural ectasia, anterior pelvic meningocele; If the family history is positive for a close relative clearly affected by Marfan’s syndrome, manifestations should be present in the skeleton and one of the other organ systems, and the diagnosis confirmed by linkage analysis or mutation detection; If the family history is negative or unknown, the patient should have manifestations in the skeleton, the cardiovascular system, and one other system, and at least one of the manifestations indicated by; Mutations in the gene that encodes fibrillin-1, the major constituent of microfibrils, which form the frame for elastic fibers. All the manifestations of Marfan’s syndrome can be explained by the defective microfibrils;----------------[Ferri].---------------------------------------------Marfan Syndrome; synonymss Arachnodactyly; Contractural Arachnodactyly; Dolichostenomelia; Marfanoid Hypermobility Syndrome ; Marfan syndrome is an inherited disorder that affects the connective tissue of the heart and blood vessels (cardiovascular system); The musculoskeletal system (ligaments and muscles) and ocular system (eyes) are also affected; Major symptoms also include unusual height, large hands and feet, and involvement of the lungs; Symptoms vary greatly among affected individuals;Marfan syndrome is inherited as an autosomal dominant trait;----------------[nord 2005]---------------------------------------

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