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Marfan Syndrome
MeSH HeadingMarfan Syndrome
Tree NumberC05.116.099.674
Tree NumberC14.240.400.725
Tree NumberC14.280.400.725
Tree NumberC16.131.077.550
Tree NumberC16.131.240.400.720
Tree NumberC16.320.540
Tree NumberC17.300.500
Scope NoteAn autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Entry TermMarfan Syndrome, Type I
Entry TermMarfan's Syndrome
See AlsoLoeys-Dietz Syndrome
See AlsoWeill-Marchesani Syndrome
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
History Note1985; use ARACHNODACTYLY 1963-1984
Date of Entry19990101
Unique IDD008382


MeSH Tree Structures

 
Musculoskeletal Diseases [C05]
   Bone Diseases [C05.116]
      Bone Diseases, Developmental [C05.116.099]
Acro-Osteolysis [C05.116.099.052]  +
Basal Cell Nevus Syndrome [C05.116.099.105]
Dwarfism [C05.116.099.343]  +
Dysostoses [C05.116.099.370]  +
Funnel Chest [C05.116.099.386]
Gigantism [C05.116.099.492]
Leg Length Inequality [C05.116.099.655]
Arrow pointing to current tree nodeMarfan Syndrome [C05.116.099.674]
Osteochondrodysplasias [C05.116.099.708]  +
Osteolysis, Essential [C05.116.099.736]
Platybasia [C05.116.099.742]
Proteus Syndrome [C05.116.099.750]
Weill-Marchesani Syndrome [C05.116.099.875]

 
Cardiovascular Diseases [C14]
   Cardiovascular Abnormalities [C14.240]
      Heart Defects, Congenital [C14.240.400]
22q11 Deletion Syndrome [C14.240.400.021]  +
Alagille Syndrome [C14.240.400.044]
Aortic Coarctation [C14.240.400.090]
Arrhythmogenic Right Ventricular Dysplasia [C14.240.400.145]
Barth Syndrome [C14.240.400.172]
Cor Triatriatum [C14.240.400.200]
Coronary Vessel Anomalies [C14.240.400.210]  +
Crisscross Heart [C14.240.400.220]
Dextrocardia [C14.240.400.280]  +
Ductus Arteriosus, Patent [C14.240.400.340]
Ebstein Anomaly [C14.240.400.395]
Ectopia Cordis [C14.240.400.422]
Eisenmenger Complex [C14.240.400.450]
Heart Septal Defects [C14.240.400.560]  +
Heterotaxy Syndrome [C14.240.400.592]
Hypoplastic Left Heart Syndrome [C14.240.400.625]
Isolated Noncompaction of the Ventricular Myocardium [C14.240.400.660]
LEOPARD Syndrome [C14.240.400.695]
Levocardia [C14.240.400.701]
Arrow pointing to current tree nodeMarfan Syndrome [C14.240.400.725]
Noonan Syndrome [C14.240.400.787]
Tetralogy of Fallot [C14.240.400.849]
Transposition of Great Vessels [C14.240.400.915]  +
Tricuspid Atresia [C14.240.400.920]
Trilogy of Fallot [C14.240.400.960]
Turner Syndrome [C14.240.400.980]

 
Cardiovascular Diseases [C14]
   Heart Diseases [C14.280]
      Heart Defects, Congenital [C14.280.400]
22q11 Deletion Syndrome [C14.280.400.044]  +
Aortic Coarctation [C14.280.400.090]
Arrhythmogenic Right Ventricular Dysplasia [C14.280.400.145]
Barth Syndrome [C14.280.400.172]
Cor Triatriatum [C14.280.400.200]
Coronary Vessel Anomalies [C14.280.400.210]  +
Crisscross Heart [C14.280.400.220]
Dextrocardia [C14.280.400.280]  +
Ductus Arteriosus, Patent [C14.280.400.340]
Ebstein Anomaly [C14.280.400.395]
Eisenmenger Complex [C14.280.400.450]
Heart Septal Defects [C14.280.400.560]  +
Heterotaxy Syndrome [C14.280.400.592]
Hypoplastic Left Heart Syndrome [C14.280.400.625]
Isolated Noncompaction of the Ventricular Myocardium [C14.280.400.660]
LEOPARD Syndrome [C14.280.400.695]
Levocardia [C14.280.400.701]
Arrow pointing to current tree nodeMarfan Syndrome [C14.280.400.725]
Noonan Syndrome [C14.280.400.787]
Tetralogy of Fallot [C14.280.400.849]
Transposition of Great Vessels [C14.280.400.915]  +
Tricuspid Atresia [C14.280.400.920]
Trilogy of Fallot [C14.280.400.960]
Turner Syndrome [C14.280.400.980]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Congenital Abnormalities [C16.131]
      Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]  +
Alagille Syndrome [C16.131.077.065]
Alstrom Syndrome [C16.131.077.080]
Angelman Syndrome [C16.131.077.095]
Bardet-Biedl Syndrome [C16.131.077.112]
Barth Syndrome [C16.131.077.121]
Basal Cell Nevus Syndrome [C16.131.077.130]
Beckwith-Wiedemann Syndrome [C16.131.077.133]
Bloom Syndrome [C16.131.077.137]
Branchio-Oto-Renal Syndrome [C16.131.077.208]
Carney Complex [C16.131.077.229]
CHARGE Syndrome [C16.131.077.239]
Cockayne Syndrome [C16.131.077.250]
Costello Syndrome [C16.131.077.256]
Cri-du-Chat Syndrome [C16.131.077.262]
De Lange Syndrome [C16.131.077.272]
Deaf-Blind Disorders [C16.131.077.299]  +
Donohue Syndrome [C16.131.077.313]
Down Syndrome [C16.131.077.327]
Ectodermal Dysplasia [C16.131.077.350]  +
Fraser Syndrome [C16.131.077.371]
Gardner Syndrome [C16.131.077.393]
Heterotaxy Syndrome [C16.131.077.401]
Holoprosencephaly [C16.131.077.410]
Incontinentia Pigmenti [C16.131.077.445]
Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477]
Laurence-Moon Syndrome [C16.131.077.509]
LEOPARD Syndrome [C16.131.077.525]
Loeys-Dietz Syndrome [C16.131.077.537]
Arrow pointing to current tree nodeMarfan Syndrome [C16.131.077.550]
Mobius Syndrome [C16.131.077.578]
Monilethrix [C16.131.077.592]
Nail-Patella Syndrome [C16.131.077.606]
Netherton Syndrome [C16.131.077.619]
Nevus, Sebaceous of Jadassohn [C16.131.077.633]
Oculocerebrorenal Syndrome [C16.131.077.661]
Orofaciodigital Syndromes [C16.131.077.677]
Pallister-Hall Syndrome [C16.131.077.690]
Pentalogy of Cantrell [C16.131.077.696]
POEMS Syndrome [C16.131.077.703]
Prader-Willi Syndrome [C16.131.077.730]
Prolidase Deficiency [C16.131.077.735]
Proteus Syndrome [C16.131.077.740]
Prune Belly Syndrome [C16.131.077.745]
Rubella Syndrome, Congenital [C16.131.077.790]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Short Rib-Polydactyly Syndrome [C16.131.077.850]
Silver-Russell Syndrome [C16.131.077.855]
Smith-Lemli-Opitz Syndrome [C16.131.077.860]
Smith-Magenis Syndrome [C16.131.077.879]
Sotos Syndrome [C16.131.077.889]
Trichothiodystrophy Syndromes [C16.131.077.899]
Waardenburg Syndrome [C16.131.077.938]
Weill-Marchesani Syndrome [C16.131.077.941]
Wolf-Hirschhorn Syndrome [C16.131.077.944]
Wolfram Syndrome [C16.131.077.951]
Zellweger Syndrome [C16.131.077.970]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Congenital Abnormalities [C16.131]
      Cardiovascular Abnormalities [C16.131.240]
         Heart Defects, Congenital [C16.131.240.400]
22q11 Deletion Syndrome [C16.131.240.400.021]  +
Alagille Syndrome [C16.131.240.400.044]
Aortic Coarctation [C16.131.240.400.090]
Arrhythmogenic Right Ventricular Dysplasia [C16.131.240.400.145]
Barth Syndrome [C16.131.240.400.172]
Cor Triatriatum [C16.131.240.400.200]
Coronary Vessel Anomalies [C16.131.240.400.210]  +
Crisscross Heart [C16.131.240.400.220]
Dextrocardia [C16.131.240.400.280]  +
Ductus Arteriosus, Patent [C16.131.240.400.340]
Ebstein Anomaly [C16.131.240.400.395]
Ectopia Cordis [C16.131.240.400.422]
Eisenmenger Complex [C16.131.240.400.450]
Heart Septal Defects [C16.131.240.400.560]  +
Heterotaxy Syndrome [C16.131.240.400.592]
Hypoplastic Left Heart Syndrome [C16.131.240.400.625]
Isolated Noncompaction of the Ventricular Myocardium [C16.131.240.400.655]
LEOPARD Syndrome [C16.131.240.400.685]
Levocardia [C16.131.240.400.701]
Long QT Syndrome [C16.131.240.400.715]  +
Arrow pointing to current tree nodeMarfan Syndrome [C16.131.240.400.720]
Noonan Syndrome [C16.131.240.400.784]
Tetralogy of Fallot [C16.131.240.400.849]
Transposition of Great Vessels [C16.131.240.400.915]  +
Tricuspid Atresia [C16.131.240.400.920]
Trilogy of Fallot [C16.131.240.400.960]
Turner Syndrome [C16.131.240.400.970]
Wolff-Parkinson-White Syndrome [C16.131.240.400.980]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
Adrenal Hyperplasia, Congenital [C16.320.033]
Alagille Syndrome [C16.320.051]
alpha 1-Antitrypsin Deficiency [C16.320.060]
Anemia, Hemolytic, Congenital [C16.320.070]  +
Anemia, Hypoplastic, Congenital [C16.320.077]  +
Angioedemas, Hereditary [C16.320.078]
Ataxia Telangiectasia [C16.320.080]
Autoimmune Lymphoproliferative Syndrome [C16.320.089]
Blood Coagulation Disorders, Inherited [C16.320.099]  +
Brugada Syndrome [C16.320.100]
CADASIL [C16.320.129]
Camurati-Engelmann Syndrome [C16.320.144]
Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
CHARGE Syndrome [C16.320.165]
Cherubism [C16.320.170]
Chromosome Disorders [C16.320.180]  +
Costello Syndrome [C16.320.185]
Cystic Fibrosis [C16.320.190]
Donohue Syndrome [C16.320.215]
Dwarfism [C16.320.240]  +
Eye Diseases, Hereditary [C16.320.290]  +
Frasier Syndrome [C16.320.306]
Genetic Diseases, X-Linked [C16.320.322]  +
Genetic Diseases, Y-Linked [C16.320.338]
Hajdu-Cheney Syndrome [C16.320.355]
Hemoglobinopathies [C16.320.365]  +
Hereditary Autoinflammatory Diseases [C16.320.382]  +
Heredodegenerative Disorders, Nervous System [C16.320.400]  +
Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
Kallmann Syndrome [C16.320.467]
Kartagener Syndrome [C16.320.480]
Loeys-Dietz Syndrome [C16.320.510]
Arrow pointing to current tree nodeMarfan Syndrome [C16.320.540]
Metabolism, Inborn Errors [C16.320.565]  +
Muscular Dystrophies [C16.320.577]  +
Myasthenic Syndromes, Congenital [C16.320.590]
Nail-Patella Syndrome [C16.320.600]
Neoplastic Syndromes, Hereditary [C16.320.700]  +
Osteogenesis Imperfecta [C16.320.737]
Pain Insensitivity, Congenital [C16.320.775]
Pelger-Huet Anomaly [C16.320.784]
Polycystic Kidney, Autosomal Recessive [C16.320.793]
Pycnodysostosis [C16.320.812]
Skin Diseases, Genetic [C16.320.850]  +
Weill-Marchesani Syndrome [C16.320.887]
Werner Syndrome [C16.320.925]
Yellow Nail Syndrome [C16.320.962]

 
Skin and Connective Tissue Diseases [C17]
   Connective Tissue Diseases [C17.300]
Anetoderma [C17.300.116]
Cartilage Diseases [C17.300.182]  +
Cellulitis [C17.300.185]  +
Collagen Diseases [C17.300.200]  +
Cutis Laxa [C17.300.230]
Dermatomyositis [C17.300.250]
Dupuytren Contracture [C17.300.270]
Homocystinuria [C17.300.428]
Lupus Erythematosus, Cutaneous [C17.300.475]  +
Lupus Erythematosus, Systemic [C17.300.480]  +
Arrow pointing to current tree nodeMarfan Syndrome [C17.300.500]
Mixed Connective Tissue Disease [C17.300.540]
Mucinoses [C17.300.550]  +
Neoplasms, Connective Tissue [C17.300.680]  +
Noonan Syndrome [C17.300.690]
Osteopoikilosis [C17.300.705]
Panniculitis [C17.300.710]  +
Penile Induration [C17.300.715]
Pseudoxanthoma Elasticum [C17.300.766]
Rheumatic Diseases [C17.300.775]  +
Scleroderma, Localized [C17.300.787]
Scleroderma, Systemic [C17.300.799]  +
Weill-Marchesani Syndrome [C17.300.899]

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