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Marfan syndrome OR arachnodactyly OR hyperextensibility syndrome
- Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures ...
- ... increase TGF-β activity cause a disorder called Marfan syndrome (see below), which is characterized by tall stature. ... develop additional features typical of a condition called Marfan syndrome (described below), such as abnormalities of the large ...
- ... those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers ( ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. ...
- ... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. The prevalence of isolated ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...
- ... X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia ...
- ... Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Am J Med Genet A. 2013 Sep;161A( ...
- ... first person to describe the disorder (for example, Marfan syndrome , which was named after Dr. Antoine Bernard-Jean Marfan); A geographic area (for example, familial Mediterranean fever , ...
- ... Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 ...
- ... the disorder in their family. Huntington's disease , Marfan syndrome Autosomal recessive In autosomal recessive inheritance , variants occur ...
- ... Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 ...