How can marfan syndrome be detected before birth




















If your child has Marfan syndrome, an orthopedist a doctor with special training in bone conditions checks her each year for scoliosis. If scoliosis is severe, some children may need a brace or surgery. A common problem in Marfan syndrome is a dislocated lens in one or both eyes. In this condition, the lens the part of the eye that helps focus light shifts out of place. This can affect how well a person sees. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications include:. If your child has Marfan syndrome, an ophthalmologist a doctor with special training in eye conditions checks his eyes each year for vision problems.

Most eye problems are treated with glasses or contact lenses. When cataracts and glaucoma are treated early, vision problems may be prevented or be less serious. Retina problems can be treated with surgery. Marfan syndrome can cause lung conditions that can make it hard for a person to breathe, including restrictive lung disease, collapsed lung, emphysema and asthma. People with Marfan syndrome also may have sleep apnea.

Treatment for these conditions may include oxygen, medicine and special therapies to help the lungs work better. A collapsed lung may be treated with a chest tube a tube placed in the chest to help remove air or surgery. Secondhand smoke can cause lung problems for children with Marfan syndrome. Marfan syndrome is caused by a gene change also called a mutation. This is a change to instructions that are stored in a gene. A gene change sometimes can cause birth defects and other health conditions.

This means the gene change that causes Marfan syndrome is passed from parent to child. Only babies who get the gene change have Marfan syndrome. If you or a family member has Marfan syndrome, talk to a genetic counselor to learn more about the chances of your baby having it.

Get expert tips and resources from March of Dimes and CDC to increase your chance of having a healthy, fully-term pregnancy and baby. March of Dimes leads the fight for the health of all moms and babies.

We support research, lead programs and provide education and advocacy so that every family can have the best possible start. Building on a successful year legacy, we support every pregnant person and every family. March of Dimes, a not-for-profit, section c 3. But treatments can help delay or prevent complications, especially when they're started early.

This is why early diagnosis is so important. Marfan syndrome can affect many parts of your child's body, including the heart, bones and joints, and eyes. The type of treatment your child receives depends on their symptoms and related conditions. The most common and serious heart problem in people with Marfan syndrome is aortic dilation aneurysm , a stretching and weakening of the aorta. It can lead to a bulge, tear, or leak in the aorta, which can be life threatening.

If your child has scoliosis — a common problem in children with Marfan syndrome — your child may need to wear a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery.

Some children may also need surgery to repair a chest that sinks in pectus excavatum or that sticks out pectus carinatum. The results of the biochemical investigation were in concordance with the molecular analysis. Abstract Marfan syndrome MFS is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin Have a question? We can help. Ask a Question. Long arms, legs and fingers Tall and thin body type Curved spine Deep-set eyes Long arms, legs and fingers Flat feet.

Looking for Key Features of Another Condition? Neonatal Marfan Syndrome Learn More. Learn More.



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