How can I help someone with Marfan syndrome?
You can get support to cope with their own reactions to learning that their child has Marfan syndrome. Often a professional, such as a genetic counselor, a social worker, a psychologist, or a member of the clergy (with knowledge of genetic disorders), can help parents with their feelings about the diagnosis.
What kind of medical assistance is needed for Marfan syndrome?
Your doctor may recommend blood pressure medicines to relieve any strain on or bulging of the aorta. These medicines help your heart beat slower and with less force. Beta blockers or angiotensin receptor blockers (ARBs) are the most common.
How is the family affected by Marfan syndrome?
It helps make a protein in connective tissue called fibrillin-1. The abnormal gene happens as follows: In about 3 out of 4 cases, the gene is inherited from a parent who is affected. Each child of an affected parent has a 1 in 2 chance of having the disorder (autosomal dominant inheritance).
Is genetic counseling an option for Marfan syndrome?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.
Does Marfan syndrome affect teeth?
Many people with Marfan syndrome have narrow jaws and a high-arched palate, which can create dental (tooth) and orthodontic (alignment) problems.
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.
Are people with Marfan skinny?
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe.
At what age is Marfan syndrome detected?
Study Patients. Their ages when the Marfan syndrome was first diagnosed ranged from 32 to 72 years (mean age, 46 years). Of these 28 patients, 7 were older than 50 years of age at the time of initial diagnosis.
Why can’t marfans gain weight?
According to medical professionals, the reason why so many people with Marfan syndrome simply cannot gain weight isn’t fully understood, but they believe it may have something to do with the underdeveloped muscles that are associated with Marfan syndrome.
What is the disease where you can’t gain weight?
In its most extreme form, anorexia nervosa causes extreme weight loss and sometimes the inability to gain weight entirely. Other conditions, such as bulimia, can make it hard for a person to keep enough calories down to maintain weight.
Can you be short and have Marfan syndrome?
Not everyone with Marfan syndrome is tall (some are tall for their family and some are, in fact, short!),but this blog may resonate with many of you.
What is the 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 a disability?
People who are properly diagnosed with Marfan syndrome are often able to lead normal lives with treatment. However, severe cases that do not respond to treatment can cause a person to be considered disabled.
What is Lujan Fryns syndrome?
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome (OMIM 309520) is a syndromal X-linked form of mental retardation (mild to moderate mental retardation), associated with tall, marfanoid stature, distinct facial dysmorphism and behavioural problems. The genetic defect is not known.