Results for: arachnodactyly

What is morphan syndrome?

what is morphan syndrom what is morphan syndrom Marfan syndrome A connective tissue, multisystemic disorder characterized by skeletal changes (arachnodactyly ; long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal… Full Answer

Does marfan syndrome affect the aorta?

Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is… Full Answer

What may cause Marfan syndrome?

Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function… Full Answer

Who discovered the Marfan Syndrome?

Antione B. Marfan Marfan syndrome was first described by a French doctor named Antione B. Marfan, who reported that one of his patients, Gabrielle, had especially long fingers (he called this arachnodactyly, or spider-fingers), skeletal abnormalities (including arms that were… Full Answer