To be diagnosed with Marfan syndrome, your child must have some specific health problems affecting the heart, blood vessels, bones, and eyes. Your child may also have tests, such as: Electrocardiography (ECG). A test that records the electrical activity of the heart.
At what age is Marfan syndrome detected?
People are born with Marfan syndrome and related conditions, but they may not notice any features until later in life. However, features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children.
Can Marfan syndrome go undetected?
The exact number is unknown because the condition often goes undiagnosed. If it”s not caught in time, half of those who experience it die within 48 hours. The condition often occurs in people in their 30s and 40s who outwardly appear healthy.
Are you born with Marfan syndrome?
People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement.
Can you have a mild case of Marfan syndrome?
Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses with age and symptoms of Marfan syndrome become noticeable as changes in connective tissue occur.
Can you have marfans and not be tall?
How Do Doctors Diagnose It? 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.
How do you rule out Marfan syndrome?
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected.
What are the signs that suggest a person may have marfans?
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 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.
Is there a genetic test for Marfan syndrome?
Is there a genetic test for Marfan syndrome? Genetic testing can provide helpful information in some cases. For individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.
What is the average lifespan of someone with Marfan syndrome?
Despite the high risk for Marfan-related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years.
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.
How rare is Marfan syndrome?
Marfan syndrome is rare, happening in about 1 in 5,000 people. Marfan syndrome is caused by a mutation in a gene called FBN1.
What does it mean when a baby has long fingers and toes?
Macrodactyly is an uncommon condition in which a baby’s toes or fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. The condition is congenital, meaning babies are born with it. Macrodactyly happens more often to hands than feet.