inherited disorder that results in connective tissue abnormalities, especially in the skeleton, eyes, and cardiovascular system
This is a birth defect where connective tissue is abnormal. Patients tend to be tall but have many blood vessel problems.
an inherited (autosomal dominant) connective tissue multisystemic disorder characterized by skeletal changes (long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm, mitral valve prolapse), and ectopia lentis
an inherited disorder of connective tissue which affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. Further info.
A rare inherited disease that affects connective tissue. It produces abnormalities in the eyes, skeleton, heart and blood vessels.
an inheritable condition that affects the connective tissue
A genetic disorder that affects the connective tissue of the body. It causes dilation of blood vessels and abnormalities of cardiac valves.
An inherited disorder of connective tissue which may affect many parts of the body including the bones, eyes, heart and aorta.
An inherited disease affecting the bones, joints, heart and blood vessels. (Read about " Marfan Syndrome")
A connective tissue disorder with autosomal dominant inheritance caused by a defect in the fibrillin gene on chromosome 15. The phenotypic expression varies. Patients may have tall stature, abnormal body proportions, ocular abnormalities, dural ectasia, protrusio acetabulae, and present with skeletal and cardiovascular abnormalities. Mitral valve prolapse with mitral regurgitation, ascending aortic dilation/aneurysm with subsequent aortic regurgitation, and aortic dissection are the most common cardiovascular abnormalities. see also Ghent criteria.
A human disorder of the connective tissue expressed as a range of symptoms, including very long limbs and digits as well as heart defects; inherited as an autosomal dominant phenotype.
A rare inherited disease of the connective tissues that produces abnormalities in the skeleton, heart and blood vessels.
Inherited disorder of the connective tissue, bones, muscles, ligaments, and skeletal structures. It is characterized by a tall lean body type with long extremities, abnormal joint flexibility, dislocation of the lens of the eye, cataracts, secondary glauc
a connective tissue disorder associated with autosomal dominant inheritance.
A human disorder of the connective tissue expressed as a range of symptoms, including heart defects and very long limbs and digits; inherited as an autosomal dominant phenotype.
Marfan syndrome is a genetic autosomal dominant disorder of the connective tissue characterized by unusually long limbs, great stature or long toes or fingers in proportion to height. The disease may also affect numerous other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.