The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Dilatation of the ascending aorta||90%|
|Disproportionate tall stature||90%|
|Skeletal muscle atrophy||90%|
|Decreased body weight||50%|
|Hypoplasia of the zygomatic bone||50%|
|Abnormality of the aortic valve||7.5%|
|Abnormality of the endocardium||7.5%|
|Attention deficit hyperactivity disorder||7.5%|
|Congestive heart failure||7.5%|
|Hernia of the abdominal wall||7.5%|
|Limitation of joint mobility||7.5%|
|Reduced bone mineral density||7.5%|
|Aortic root dilatation||-|
|Ascending aortic aneurysm||-|
|Autosomal dominant inheritance||-|
|Decreased muscle mass||-|
|Deeply set eye||-|
|Hypoplasia of the iris||-|
|Increased axial globe length||-|
|Medial rotation of the medial malleolus||-|
|Mitral valve prolapse||-|
|obsolete Decreased subcutaneous fat||-|
|Premature calcification of mitral annulus||-|
|Pulmonary artery dilatation||-|
|Tricuspid valve prolapse||-|
Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Request for Proposals: The Marfan Foundation Research Grants
February 3, 2016
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Are there ways for an individual with Marfan syndrome to prevent passing on the condition to his or her offspring? See answer
What are the symptoms of MASS syndrome? Is MASS syndrome related to Marfan syndrome? See answer
I have been told that I probably have Marfan's Syndrome and at this point it appears to be a mild form of the condition (aortic aneurysm and mitral valve prolapse). I am a 60 year old mother of 4 children. My question is that because this is a genetic condition, what are the chances that my children and grandchildren have inherited it and will they also inherit the mild form?