Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. The syndrome is inherited as a dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome. The constellation of long limbs, dislocated lenses and the aortic root dilation are generally sufficient to make the diagnosis of Marfan syndrome with reasonable confidence. More than 30 other clinical features are variably associated with the syndrome, most involving the skeleton, skin, and joints.  considerable clinical variability occurs within families carrying the identical mutation. Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. The syndrome is inherited as a dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome.

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms

Marfan Syndrome Symptoms