Marfan syndrome
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- Marfan syndrome
- Hi , Roya! I have some news for you. Your daughter is having a condition called Marfan syndrome.
- Oh my God! What is that? How did she get it?
- Marfan syndrome is a genetic , autosomal dominant, disorder that affects connectivity tissue. That type of tissue hold all parts of our body, like organs and tissues, together.
- Genetic disorder? But no one in our family has one! Will she be OK? What are the symptoms?
- In 27% of cases, the mutation is new, meaning that she was the first in the family that developed the mutation and will be able to pass it on to her children. Symptoms vary depending on the type of gene affected, but some of the most obvious and often ones are related to the skeletal system. She will have a long and thin body type, including arms and legs, curved spine, flat feet, flexible joints, and crowded teeth. Other symptoms are related to the cardiovascular system, like the malfunction of aortae, and eyes-related symptoms, like myopia, cataract, and glaucoma. Pulmonal symptoms are also possible, caused by the chest malformation But we will have to run special tests to confirm those.
- The statistics are saying that one in 9800 newborns are affected.
- So, you are 100% sure my daughter has this? Is there any other specialists we should visit to get an additional opinion?
- I have never heard of that disease! Is it a very rare one?
- The golden standard for diagnosing Marfan syndrome is the, so called, Ghent criteria. It included collecting a detailed medical and family history and series of physical examinations.
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