loading...| Preferred Name | Marfan Syndrome | |
| Synonyms |
Marfan's Disease Marfan Syndrome, Type I Marfan Syndrome MFS1 |
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| Definitions |
[MSH Definition]: An 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. [NICHD Definition]: 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. [CSP Definition]: Disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait. [NCIt Definition]: 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. [GARD Definition]: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). - this information is from GARD/ORDR/NCATS. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0024796 |
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| Annotation Terms |
Marfan's syndrome (disorder) Marfans Syndrome Syndrome, Marfan Syndrome, Marfan's MARFAN'S SYNDROME Marfan's syndrome, unspecified Marfan Syndrome [Disease/Finding] |
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| Definition |
[MSH Definition]: An 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. [NICHD Definition]: 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. [CSP Definition]: Disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait. [NCIt Definition]: 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. [GARD Definition]: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). - this information is from GARD/ORDR/NCATS. |
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| External Source | ||
| Label |
Marfan Syndrome |
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| notation |
C0024796 |
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| PAT ID |
C0024796 |
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| prefLabel |
Marfan Syndrome |
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| Sub Class Of | ||
| Synonyms |
Marfan's Disease Marfan Syndrome, Type I Marfan Syndrome MFS1 |