What are 4 symptoms of Marfan syndrome?

Marfan syndrome features may include:

• Tall and slender build.
• Disproportionately long arms, legs and fingers.
• A breastbone that protrudes outward or dips inward.
• A high, arched palate and crowded teeth.
• Heart murmurs.
• Extreme nearsightedness.
• An abnormally curved spine.
• Flat feet.

What are the systemic features of Marfan syndrome?

Many individuals referred for possible Marfan’s syndrome are shown to have evidence of a systemic disorder of the connective tissue, including long limbs, deformity of the thoracic cage, striae atrophicae, mitral valve prolapse, and mild and non-progressive dilatation of the aortic root, but do not meet diagnostic …

What are some physical characteristics of a person with Marfan syndrome?

People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their breastbone (sternum) may either stick out or be indented. Their joints may be weak and easily become dislocated.

Which disorder have overlapping features with Marfan syndrome?

Loeys-Dietz syndrome (LDS) is a rare disorder characterized by a variety of symptoms that overlap with Marfan syndrome. Individuals with Loeys-Dietz syndrome have skeletal and cardiovascular abnormalities.

At what age is Marfan syndrome usually diagnosed?

We found a median age at diagnose of 19.0 years (range: 0.0–74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria.

Can you have marfans and not be tall?

Not everyone who’s tall or thin or nearsighted has the disease. People who have Marfan syndrome have very specific symptoms that usually occur together, and it’s this pattern that doctors look for when diagnosing it.

At what age is Marfan syndrome detected?

Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking and examining a small sample of amniotic fluid (the fluid that surrounds the fetus in the womb). While these tests can show if your child has the gene defect, they can’t indicate how severe the condition will be.

What can Marfan be mistaken for?

jpg. There are conditions related to Marfan syndrome that can cause people to struggle with some of the same or similar physical problems. Some examples are Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and Familial Thoracic Aortic Aneurysm and Dissection.

What should I monitor my child with Marfan syndrome?

Diagnosing Marfan Syndrome Your child will need an echocardiogram to look for signs of Marfan affecting their heart. The doctor will look for mitral valve prolapse (valve is “floppy” and does not close right) and aortic dilation (aorta is bigger than normal).

Why are people with Marfan’s tall?

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body. The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs.

What type of doctor should I see for Marfan syndrome?

Ideally, look for a medical geneticist, a doctor who specializes in genetic conditions such as Marfan syndrome. A second choice is a cardiologist (heart doctor). Make sure the cardiologist has treated people who have Marfan syndrome and related conditions.

What famous person has Marfan syndrome?

Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.

What are the diagnostic features of Marfan syndrome?

The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the presence of characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical diagnostic features: Dilatation or dissection of the aorta at the level of the sinuses of Valsava.

How old do you have to be to have Marfan syndrome?

However, features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children. Other people develop features, including aortic enlargement, as teens or even as adults.

How does Marfan syndrome affect the heart valve?

People who have Marfan syndrome can have weaker tissue than normal in their heart valves. This can produce stretching of the valve tissue and abnormal valve function. When heart valves don’t work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

What causes long arms and legs with Marfan syndrome?

Longer arms in Marfan syndrome. Longer arms in Marfan syndrome. Your doctor may want to measure your arm span if he or she thinks you might have Marfan syndrome, a genetic disorder that causes people to have disproportionately long arms, legs and fingers. The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family.