What does marfan look like

Overview Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Finger length in Marfan syndrome Open pop-up dialog box Close. Finger length in Marfan syndrome People who have Marfan syndrome typically have especially long fingers. Longer arms in Marfan syndrome Open pop-up dialog box Close.

Longer arms in Marfan syndrome Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Request an Appointment at Mayo Clinic. Aneurysm at aortic root Open pop-up dialog box Close. Aneurysm at aortic root The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. Aortic aneurysm and aortic dissection Open pop-up dialog box Close.

Aortic aneurysm and aortic dissection An aortic aneurysm occurs when a weak spot in the wall of your aorta begins to bulge left. Lens dislocation Open pop-up dialog box Close. Lens dislocation Some people who have Marfan syndrome may experience the dislocation of the lens in their eye.

Retinal detachment Open pop-up dialog box Close. Retinal detachment Retinal detachment describes an emergency situation in which a critical layer of tissue the retina at the back of the eye pulls away from the layer of blood vessels that provides it with oxygen and nutrients. Scoliosis Open pop-up dialog box Close. Scoliosis Viewed from the side, the normal spine takes the form of an elongated S, the upper back bowing outward and the lower back curving slightly inward.

Chest abnormalities Open pop-up dialog box Close. Chest abnormalities Marfan syndrome can interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Share on: Facebook Twitter. Show references Marfan syndrome: In-depth. Accessed Jan. Ferri FF. Marfan syndrome. In: Ferri's Clinical Advisor Elsevier; Kliegman RM, et al. In: Nelson Textbook of Pediatrics. Wright MJ, et al. Genetics, clinical features and diagnosis of Marfan syndrome and related disorders.

Management of Marfan syndrome and related disorders. Mayo Clinic; And because people who have Loeys-Dietz tend to experience tearing of the aorta earlier than Marfan patients, they often need earlier and more aggressive treatment, including surgery. Starting out with a comprehensive list of 20 or so classic Marfan features, including long tapering fingers, a spinal curvature and a long narrow face, the researchers examined how often they occurred in Marfan and 1, non-Marfan patients seen at Hopkins.

The researchers calculated the diagnostic potential of each feature based on two factors: how common it was among Marfan patients and how well it could help differentiate between patients with the disorder and those without it. The strongest diagnostic predictor of Marfan in the study was the combination of certain facial features with a very long thumb. With a diagnostic accuracy index of 0. A patient with any two of the following signs with high diagnostic potential should be sent to a Marfan specialist:.

A patient with three or four of the following should be sent to a specialist:. Another potent combination was the pairing of scoliosis a curvature of the spine with either facial features or an extra long thumb. Commonly seen in people without Marfan, scoliosis by itself is not a reliable predictor of the disorder, the researchers say.

Indeed, one in five Marfan patients in the study had none or only one physical feature, while 13 percent of the non-Marfan patients had two skeletal features suggestive of the syndrome.

Researchers reviewed the charts of 65 Loeys-Dietz patients sent to Johns Hopkins after a diagnosis elsewhere. Investigators say primary-care pediatricians and orthopedic surgeons should be on the lookout for Marfan-like features in all patients, but consider Loeys-Dietz syndrome if they also notice any of the following signs that are not found in Marfan:.

Contact us or find a patient care location. Find out more about the possible treatments for Marfan syndrome.

Find out more about the register. Although Marfan syndrome is rare, affecting about 1 in 5, people in the UK, it's one of the most common connective tissue disorders. Page last reviewed: 22 January Next review due: 22 January Children usually inherit the disorder from one of their parents.

Typical characteristics of Marfan syndrome include: being tall abnormally long and slender limbs, fingers and toes arachnodactyly heart defects lens dislocation — where the lens of the eye falls into an abnormal position Find out more about the symptoms of Marfan syndrome What causes Marfan syndrome?

The defective fibrillin gene also causes some bones to grow longer than they should. The mutated gene can be passed on to the child, who will then go on to develop the syndrome. Find out more about genetic inheritance Diagnosing Marfan syndrome Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. But it's an expensive process, as the gene can mutate in more than 3, different ways.

Find out more about how Marfan syndrome is diagnosed Treating Marfan syndrome There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.