What is Marfan syndrome?
Marfan syndrome is a genetic disorder that affects mainly the connective tissue in the body. Connective tissue can be found throughout the body, meaning the syndrome can affect many different parts of the body too.
Symptoms may vary between sufferers of the syndrome but involve mainly three systems: skeletal, ocular, and cardiovascular.
The syndrome is congenital but not all symptoms and features may be obvious at birth. Some become more apparent in childhood or, even in some cases, in adulthood.
Marfan syndrome occurs in around 1 in every 5,000 people.
Syndrome Synonyms:
Marfan Syndrome, Type I; MFS1 MFS
What gene change causes Marfan syndrome?
Mutations in the FBN1 gene on chromosome 15 cause the disorder. The syndrome is inherited in 75% of cases, while the remaining 25% of recorded cases occur due to spontaneous genetic mutations.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Marfan syndrome?
Individuals with the syndrome are usually tall and thin with long arms, legs, and fingers. Symptoms may vary between individuals but scoliosis and hyper-flexible joints are common symptoms.
Other health conditions include serious heart defects, as well as issues affecting the eyes, bones, and covering of the spinal cord. There are specific clinical criteria purposed for the syndrome and this includes a cardiovascular evaluation with echocardiogram.
Possible clinical traits/features:
Retinal detachment, Congestive heart failure, Downslanted palpebral fissures, Ectopia lentis, Dural ectasia, Emphysema, Deeply set eye, Esotropia, Dolichocephaly, Flexion contracture, Exotropia, Malar flattening, Dental crowding, Decreased muscle mass, Decreased subcutaneous fat, Pulmonary artery dilatation, Mitral annular calcification, Premature osteoarthritis, Protrusio acetabuli, Spondylolisthesis, Tricuspid valve prolapse, Aortic root aneurysm, Aortic regurgitation, Aortic dissection, Arachnodactyly, Dilatation of ascending aorta, Cataract, Autosomal dominant inheritance, Retrognathia, Pneumothorax, Pectus carinatum, Overgrowth, Pes cavus, Pes planus, Striae distensae, Tall stature, Increased axial length of the globe, Narrow palate, Myopia, Mitral regurgitation, Mitral valve prolapse, Narrow face, Long face, Micrognathia, Pectus excavatum, Medial rotation of the medial malleolus, Joint hypermobility, Kyphoscoliosis, Hypoplasia of the iris, High palate, Hammertoe, Incisional hernia, Genu recurvatum, Glaucoma.
How is it diagnosed?
To find out if someone has a diagnosis of Marfan syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
