Marfan Syndrome (MFS)

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Disease Ontology 11 DOID:14323 OMIM® 57 154700 ICD9CM 34 759.82 MeSH 43 D008382 NCIt 49 C34807 SNOMED-CT 68 19346006 ICD10 31 Q87.4 MESH via Orphanet 44 D008382

ICD10 via Orphanet 32 Q87.4 UMLS via Orphanet 72 C0024796 Orphanet 58 ORPHA284963 ORPHA558 MedGen 40 C0024796 SNOMED-CT via HPO 69 111266001 111287006 122481008 12351004 128306009 16596007 171131006 193570009 201066002 201067006 203534009 203598005 204145006 205091006 205101001 233992003 236037000 238108007 23986001 241556001 246635007 246800008 246923005 247053007 248316006 248328003 251036003 251047005 253383003 253645007 26845001 27272007 274152003 285384003 29271008 298181000 299464006 308546005 312894000 32958008 35580009 36118008 385522000 391987005 396232000 397540003 398151007 398152000 398309008 399054005 399252000 405773007 406506008 409712001 414564002 42059000 42343007 47212006 473372009 48724000 53226007 53888004 55033002 57048009 57190000 59606006 60234000 62250003 63567004 64217002 64859006 65814009 66857006 6686005 68962001 699222000 710864009 72239002 72352009 74035001 7461003 74969002 77599005 78441005 7890003 7973008 80093006 80423007 8074002 82649003 84114007 87433001 87979003 88565003 9406001 95714006 more ICD11 33 236564145 UMLS 71 C0024796 C0268365

MedlinePlus Genetics: ⁴² Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.

MalaCards based summary: Marfan Syndrome, also known as mfs, is related to neonatal marfan syndrome and loeys-dietz syndrome 2. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Perindopril and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related phenotypes are pectus carinatum and pes planus

MedlinePlus: ⁴¹ Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no specific test for Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

OMIM®: ⁵⁷ A heritable disorder of fibrous connective tissue, Marfan syndrome (MFS) shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations. (154700) (Updated 08-Dec-2022)

GARD: ¹⁹ Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by genetic changes in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) genetic change.

UniProtKB/Swiss-Prot: ⁷³ A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

PubMed Health : ⁶³ Marfan syndrome: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Disease Ontology: ¹¹ A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

Orphanet: ⁵⁸ Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

Wikipedia: ⁷⁵ Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those... more...

Clinical features from OMIM®:

154700 (Updated 08-Dec-2022)

Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. Marfan syndrome can affect many parts of your body, including your heart , bones and joints , eyes , nervous system , and lungs . The type of treatment you receive will depend on your signs and symptoms.

Search NIH Clinical Center for Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.