Manifestations of this disease include bilateral dislocation of the lens and increased axial length of the globe leading to retinal detachment, mitral valve prolapse, and cystic medionecrosis leading to aortic aneurysm and rupture.
An autosomal dominant genetic disease, it is caused by a defect in FBN-1, a fibrillin extracellular glycoprotein. Manifestations of this disease include bilateral dislocation of the lens and increased axial length of the globe leading to retinal detachment, mitral valve prolapse, and cystic medionecrosis leading to aortic aneurysm and rupture. However, its best known symptoms are associated with ligaments, leading to laxity of joint, kyphosis, scoliosis, and long tapering fingers and toes. FTP, name this genetic disease, whose most striking manifestation, excessively tall stature, was demonstrated by Abraham Lincoln.
An autosomal dominant genetic disease, it is caused by a defect in FBN-1, a fibrillin extracellular glycoprotein.
Marfan syndrome