What does a person with Marfan syndrome look like?

What does a person with Marfan syndrome look like?

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.

How can Marfan syndrome affect your life?

Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system. Marfan syndrome can cause dislocation of the lens of the eye and detachment of the retina, resulting in vision loss in patients with the condition.

Is Marfan Syndrome painful?

Skeletal complications It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.

When is Marfan 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.

Can Marfan syndrome skip generations?

Doctors there had more urgent news: The entire family could be at risk. “Dr. Bove told us we would need to be tested for the mutation that causes Marfan syndrome,” Post says. “He told us that Marfan does not skip a generation, so one of us likely had the syndrome.”

Can boys have Marfan syndrome?

Most kids with Marfan syndrome have it because they got the abnormal gene from one of their parents, but sometimes it happens in a child without a family history. Either way, each child born to a person with Marfan syndrome, male or female, will have a 50% chance of inheriting the abnormal gene.

Can you inherit Marfan syndrome?

Marfan syndrome is inherited in families in an autosomal dominant manner. Approximately seventy-five percent of individuals who have Marfan syndrome have a parent who also has the condition (inherited).

Does Marfan syndrome affect intelligence?

Marfan syndrome does not affect intelligence.

Is Marfan syndrome more common in males or females?

Marfan syndrome affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. The prevalence has been estimated to be 1 in 5-10,000 individuals in the general population.

Can you have Marfan syndrome and not know it?

Symptoms of Marfan syndrome Some people may not even realise they have the condition, because their features are either mild or not obvious. Symptoms may include: family history of the condition.

Can Marfan syndrome be prevented?

Marfan Syndrome Prevention Research has not yet shown that Marfan syndrome is preventable. Some people inherit the condition from a parent, and some people are born with Marfan without inheriting it. It’s important to know that if you have Marfan, you can pass it on to your children.

Can someone with Marfan syndrome gain weight?

(Note: Weight lifting is not a safe activity for people with Marfan syndrome as it puts too much strain on the heart and aorta.) Some people with Marfan syndrome do put on more weight as they get older; therefore, it’s important to have healthy eating habits now even though you main not gain any weight.

What US president is thought to have had Marfan syndrome?

Marfan syndrome Based on Lincoln’s unusual physical appearance, Dr. Abraham Gordon proposed in 1962 that Lincoln had Marfan syndrome.

What is the difference between Marfan and Ehlers Danlos?

Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.

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