Mesh term Marfan Syndrome
Browse to parent terms:Abnormalities, Multiple
Bone Diseases, Developmental
Connective Tissue Diseases
Genetic Diseases, Inborn
Heart Defects, Congenital
Description
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.Search for this term in our Faculty Database
View this term at the NCBI website
