Marfan syndrome (MFS), the founding member of heritable disorders of connective tissue, is an autosomal dominant disorder. It involves predominantly three systems: skeletal, ocular, and cardiovascular. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the Marfan syndrome (MFS). FBN1 was also shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS.

The Marfan syndrome (OMIM#1547000) is an autosomal dominant heritable disorder of connective tissue with prominent involvement of the ocular, skeletal, and cardiovascular systems.

Skeletal features : increased height, disproportionately long limbs and digits, anterior chest deformity, mild-to-moderate joint laxity, vertebral column deformity (scoliosis and thoracic lordosis), and a narrow, highly arched palate with crowding of the teeth.

Ocular features : myopia, increased axial globe length, corneal flatness, and luxation of the lenses (ectopia lentis).

Cardiovascular features: mitral valve prolapse, mitral regurgitation, aortic regurgitation, dilatation, aneurysm and dissection of the aortic root.

Other common or peculiar manifestations include striae distensae, pulmonary blebs (which predispose to spontaneous pneumothorax) dural ectasia and spinal arachnoid cysts or diverticula.