1. Skeletal malformation: increased height, long extremities, arachnodactyly (spiderlike appearance on hands/fingers), chest depression (pectus excavatum), chest protrusion (pectus carinatum), chest asymmetry, scoliosis, kyphosis, arched palate, join hypermobility.
2. Ocular: lens displacement, cataract formation, nearsightedness, and retinal detachments. Seventy- five percent have crystalline lens displacement (ectopia lentis), the ocular hallmark of Marfan's Syndrome. Quivering of the iris with eye movement (iridondonesis). Most patients are severely myopic, many have retinal detachment, and some have glaucoma.
3. Cardiac: valve and aorta dysfunction.
> Valvular - anatomic defect producing redundancy to the leaflets, stretching of the chordate tendineae, and calcification of the mitral annulus. MVP progress to MVR (backflow of blood from the LV to LA).
> Aorta - dilation of the aortic root and ascending aorta - aortic regurgitation (backflow into LV), aortic dissection, and rupture.
4. Thin body build with little subcutaneous fat, striae over the shoulders and buttocks. Spontaneous pneumothorax, inguinal and incisional hernias, dilation of the dural sac.