Marfan syndrome
45475
226027627
2008-07-16T14:34:09Z
66.200.204.129
{{Infobox_Disease
| Name = Marfan syndrome
| Image = Marfansyndrome.jpg
| Caption =
| DiseasesDB = 7845
| ICD10 = {{ICD10|Q|87|4|q|80}}
| ICD9 = {{ICD9|759.82}}
| ICDO =
| OMIM = 154700
| MedlinePlus = 000418
| eMedicineSubj = ped
| eMedicineTopic = 1372
| eMedicine_mult = {{eMedicine2|orthoped|414}}
| MeshID = D008382
}}
'''Marfan syndrome''' (or Marfan's syndrome) is genetic disorder of the [[connective tissue]].
It is sometimes inherited as a [[Autosomal_dominant | dominant]] trait, but can sometimes be a spontaneous mutation. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. Parents have a 50/50 chance of passing on the gene to their children.
People with Marfan's are typically tall, with long [[Limb (anatomy)|limb]]s and long thin fingers.
The most serious complication is defects of the [[heart valves]] and [[aorta]]. It may also affect the [[lung]]s, eyes, dural sac surrounding the [[spinal cord]], skeleton and [[hard palate]].
In addition to being a connective protein that forms the structural support for tissues outside the cell, fibrillin-1 binds to another protein, [[Transforming growth factor beta]] (TGF-β). TGF-β can cause inflammation. Researchers now believe that the inflammatory effects of TGF-β, at the lungs, heart valves, and aorta, weaken the tissues and cause the features of Marfan syndrome. Since angiotensin II receptor blockers ([[Angiotensin II receptor antagonists |ARBs]]) also reduce TGF-β, they have tested this by giving ARBs ([[losartan]], etc.) to young Marfan syndrome patients, and the growth of the aorta was indeed reduced.<ref>A small molecule for a large disease, Reed E. Pyeritz, N Engl J Med, 358:2829, June 26, 2008)</ref>
It is named after [[Antoine Marfan]], the [[France|French]] [[pediatrician]] who first described the condition in [[1896]] after noticing striking features in a 5 year old girl.<ref>[http://www.hopkinsmedicine.org/CardiacSurgery/marfancenter/history.html Comprehensive Marfan Center at Johns Hopkins]</ref>
==Epidemiology==
Marfan syndrome affects males and females equally,<ref name="marorg">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=6&menu_item_id=3|title=The role of heredity and family history|accessdate=2007-01-11|publisher=National Marfan Foundation|year=1999}}</ref> and the mutation shows no geographical bias. Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)<ref name="marorg"/> to 200 000<ref name="mednet">{{Cite web|url=http://www.medicinenet.com/script/main/art.asp?articlekey=63689|title=New, Deadly Relative of Marfan's Syndrome Discovered|accessdate=2007-01-11|publisher=MedicineNet.com|year=2006}}</ref> Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its [[autosomal dominant]] nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to ''de novo'' [[genetic mutation]]s<ref name="robspath">{{cite book | title=Robbins Pathologic Basis of Disease| last=Cotran| coauthors=Kumar, Collins| publisher=W.B Saunders Company| location=Philadelphia| id=0-7216-7335-X}}</ref> — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of [[dominant negative mutation]] and [[haploinsufficiency]].<ref name="Judge_et_al_2004">{{cite journal | last = Judge | first = Daniel P. | coauthors = Nancy J. Biery, Douglas R. Keene, Jessica Geubtner, Loretha Myers, David L. Huso, Lynn Y. Sakai, Harry C. Dietz | title = Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. | journal = The Journal of Clinical Investigation | volume = 114 | issue = 2 | pages = 172–181 | doi = 10.1172/JCI200420641 | pmid = 15254584 | url = http://www.jci.org/cgi/content/full/114/2/172 | accessdate = 2007-02-15 | year = 2004}}</ref><ref name="Judge_et_al_2005">{{cite journal | last = Judge | first = Daniel P. | coauthors = Harry C. Dietz | title = Marfan's syndrome. | journal = Lancet | volume = 366 | issue = 9501 | pages = 1965–76 | year = 2005 | doi = 10.1016/S0140-6736(05)67789-6. | pmid = 16325700 | url = http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16325700 | accessdate = 2007-02-15 | doi_brokendate = 2008-06-25}}</ref> It is associated with variable expressivity. [[Incomplete penetrance]] has not been definitively documented.
== Pathogenesis ==
Marfan syndrome is caused by mutations in the ''FBN1'' [[gene]] on [[chromosome]] 15,<ref>{{cite journal | author = McKusick V | title = The defect in Marfan syndrome. | journal = Nature | volume = 352 | issue = 6333 | pages = 279–81 | year = 1991 | pmid = 1852198 | doi = 10.1038/352279a0 <!--Retrieved from CrossRef by DOI bot-->}}</ref> which [[Genetics|encodes]] a [[glycoprotein]] called [[fibrillin]]-1, a component of the extracellular matrix. The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of [[elastic fibers]]. The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors.<ref name="robspath">{{cite book | title=Robbins Pathologic Basis of Disease| last=Cotran| coauthors=Kumar, Collins| publisher=W.B Saunders Company| location=Philadelphia| id=0-7216-7335-X}}</ref> Elastin fibers are found throughout the body but are particularly abundant in the [[aorta]], [[ligament]]s and the [[Zonule of Zinn|ciliary zonule]]s of the eye, consequently these areas are among the worst affected.
A transgenic mouse has been created carrying a single copy of a mutant fibrillin 1, a mutation similar to that found in the human fibrillin 1 gene that is known to cause Marfan syndrome. This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. It has been found that simply reducing the level of normal fibrillin-1 causes a Marfan-related disease in mice.<ref name="micefib">{{cite journal | author=Lygia Pereira, ''et al.''| title=Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1| journal=Proceedings of the National Academy of Sciences| year=1999| volume=96| issue=7| url=http://www.pnas.org/cgi/content/full/96/7/3819| pages=3819–3823| doi=10.1073/pnas.96.7.3819| pmid=10097121}}</ref>
[[Transforming growth factor]] beta (TGFβ) plays an important role in Marfan syndrome. Fibrillin-1 indirectly binds a latent form of TGFβ keeping it sequestered and unable to exert its biological activity. The simplest model of Marfan syndrome suggests that reduced levels of fibrillin-1 allow TGFb levels to rise due to inadequate sequestration. Although it is not proven how elevated TGFb levels would be responsible for the specific pathology seen with the disease, an inflammatory reaction releasing proteases that slowly degrade the elastin fibers and other components of the extracellular matrix is known to occur. The importance of the TGFb pathway was confirmed with the discovery of a similar syndrome [[Loeys-Dietz syndrome]] involving the ''TGFβR2'' gene on [[chromosome]] 3, a [[receptor protein]] of TGFβ.<ref name="tgf2beta">{{Cite web|url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=gene&dopt=full_report&list_uids=7048|title=TGFBR2 transforming growth factor, beta receptor II|accessdate=2007-01-11|publisher=NCBI|year=2007|author=Entrez Gene|format=Entrez gene entry}}</ref> Marfan syndrome has often been confused with [[Loeys-Dietz syndrome]], because of the considerable clinical overlap between the two syndromes.<ref name="loeysdietz">{{Cite web|url=http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=84|title=Related Disorders: Loeys-Dietz |accessdate=2007-01-11|publisher=National Marfan Foundation}}</ref>
==Symptoms==
Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, dislocated lenses, and aortic root dilation is sufficient to make the diagnosis with confidence. There are more than thirty other clinical features that are variably associated with the syndrome most involving the skeleton, skin, and joints. There is a great deal of clinical variability even within families that carry the identical mutation.
===Skeletal system===
The most readily visible signs are associated with the skeletal system. Many individuals with Marfan Syndrome grow to above average height. Some have long slender limbs with fingers and toes that are also abnormally long and slender ([[arachnodactyly]]). This long, slender body habitus and long, slender limbs are known as [[dolichostenomelia]]. An individual's arms may be disproportionately long, with thin, weak wrists. In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal signs. Abnormal curvature of the [[Vertebral column|spine]] ([[scoliosis]]) is common, as is abnormal indentation ([[pectus excavatum]]) or protrusion ([[pectus carinatum]]) of the [[sternum]]. Other signs include abnormal joint flexibility, a high [[palate]], [[malocclusions]], [[flat feet]], stooped shoulders, unexplained [[stretch marks]] on the skin and thin wrists. Some people with Marfan have [[speech disorder]]s resulting from symptomatic high palates and small jaws.
===Eyes===
Marfan syndrome can also seriously affect the eyes and vision. [[myopia|Nearsightedness]] and [[astigmatism (eye)|astigmatism]] are common, but farsightedness can also result. [[Subluxation]] (dislocation) of the crystalline [[lens (anatomy)|lens]] in one or both eyes (''[[ectopia lentis]]'') also occurs and may be detected by an [[ophthalmologist]] or [[optometrist]] using a [[Slit lamp|slit-lamp]] biomicroscope. In Marfan's the dislocation is typically superotemporal whereas in the similar condition [[homocystinuria]], the dislocation is inferonasal. Sometimes eye problems appear only after the weakening of connective tissue has caused [[retinal detachment|detachment of the retina]].<ref name="mayo-gen">{{Cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|accessdate=2007-01-12|publisher=Mayo Clinic}}</ref> Early onset [[glaucoma]] can be another complication.
===Cardiovascular system===
The most serious conditions associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, [[heart palpitations]], [[tachycardia|racing heartbeats]], or [[Angina pectoris|pain in the left chest, back, shoulder, or arm]], can bring a person into the doctor's office. Cold arms, hands and feet can also be seriously linked to [[marfan syndrome]] because of a loss of blood circulation. A [[heart murmur]] heard on a [[stethoscope]], an abnormal reading on an [[electrocardiogram]], or symptoms of [[Angina pectoris|angina]] can lead a doctor to order an [[echocardiogram]]. This can reveal signs of leakage or [[prolapse]] of the mitral or aortic [[heart valve|valves]] that control the flow of blood through the heart. (See [[mitral valve prolapse]].) However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an [[aortic aneurysm]]. Sometimes, no heart problems are apparent until the weakening of the connective tissue in the [[aorta|ascending aorta]] causes an [[aortic aneurysm]] or even [[aortic dissection]].
Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.<ref name="Braunwald-2005">{{cite book | coauthors=Zipes, Libby Bonow Braunwald | title=Braunwald's Heart Disease ~ A Textbook of Cardiovascular Medicine, Seventh Edition | publisher=Elseview Saunders | date=2005 | location=United States of America | pages=1894 | id=ISBN 0-7216-0509-5}}</ref> Care should be taken to attempt repair of damaged heart valves rather than replacement.
During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of acute [[aortic dissection]], which can be lethal if untreated. For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and [[echocardiography]] should be performed every 6-10 weeks during pregnancy, to assess the aortic root diameter. Most women however tolerate pregnancy well and safe vaginal delivery is possible.<ref name="emed">{{Cite web|url=http://www.emedicine.com/ped/fulltopic/topic1372.htm#section~Miscellaneous|title=Marfan Syndrome, special concerns|accessdate=2007-06-25}}</ref>
===Lungs===
Marfan syndrome is a [[risk factor]] for spontaneous [[pneumothorax]]. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the [[pleural]] space between the chest wall and a [[lung]]. The lung becomes partially compressed or collapsed. This can cause pain, shortness of breath, [[cyanosis]], and, if not treated, death. Marfan syndrome has also been associated with [[sleep apnea]] and [[idiopathic]] obstructive lung disease.
===Central nervous system===
Another condition that can reduce the quality of life for an individual, though not life-threatening, is [[dural ectasia]], the weakening of the connective tissue of the dural sac, the membrane that encases the [[spinal cord]]. Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower [[back pain]], leg pain, [[abdominal pain]], other neurological symptoms in the lower extremities, or [[headaches]]. Such symptoms usually diminish when the individual lies flat on his or her back. These types of symptoms might lead a doctor to order an [[X-ray]] of the [[lumbar|lower spine]]. Dural ectasia is usually not visible on an X-ray in the early phases. A worsening of symptoms and the lack of finding any other cause should eventually lead a doctor to order an upright [[MRI]] of the lower spine. Dural ectasia that has progressed to the point of causing these symptoms would appear in an upright MRI image as a dilated pouch that is wearing away at the [[lumbar vertebrae]].<ref name="mayo-gen" /> Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts.
==Management==
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades, and clinical trials are underway for a promising new treatment.<ref>Freeman, Elaine (2007) "[http://www.hopkinsmedicine.org/hmn/F07/feature1.cfm A Silver Bullet for Blake]", ''Johns Hopkins Magazine'', Fall, 2007.</ref> The syndrome is treated by addressing each issue as it arises, and, in particular, considering preventive medication, even for young children, to slow progression of aortic dilation.
Regular checkups by a [[cardiologist]] are needed to monitor the health of the heart valves and the aorta. The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating [[Cardiac arrhythmia|arrythmias]], minimizing the [[heart rate]], and minimizing [[blood pressure]]. [[Beta blocker]]s have been used to control [[Cardiac arrhythmia|arrythmias]] and slow the [[heart rate]]. Other medications might be needed to further minimize [[blood pressure]] without slowing the [[heart rate]], such as [[ACE inhibitors]] and [[angiotensin II receptor antagonist]]s, also known as angiontensin receptor blockers (ARBs). If the dilation of the aorta progresses to a significant diameter [[aneurysm]], causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery (possibly a composite aortic valve graft [CAVG] or valve-sparing procedure) becomes necessary. Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.<ref>[http://www.docguide.com/news/content.nsf/news/852571020057CCF6852573E1005A0BDC] [[Duke Cameron]]. Aortic Root Replacement in 372 Marfan Patients: Evolution of Operative Repair Over 30 Years at Johns Hopkins Hospital.</ref> Surgery in the setting of acute aortic dissection or rupture is considerably more problematic. Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimeters (2.0 inches), but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.<ref name="mayo-heart">{{Cite web|url=http://www.mayoclinic.org/marfan-syndrome/heartsurgery.html|title=Heart Surgery for Marfan Syndrome|accessdate=2007-01-12|publisher=Mayo Clinic}}</ref> As Marfan patients live longer, other vascular repairs are becoming more common, e.g. repairs of descending thoractic aortic aneurysms and aneurysms of vessels other than the aorta.
The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. This can also affect height, arm length, and life span. The [[Nuss procedure]] is now being offered to people with Marfan syndrome to correct 'sunken chest' or ([[pectus excavatum]]).<ref name="chkd">{{Cite web|url=http://www.chkd.org/services/nussprocedure/Overview.aspx|title=Overview of the Nuss Procedure for Pectus Excavatum|accessdate=2007-01-12|publisher=Children's Hospital of The King's Daughters}}</ref> Because Marfan may cause spinal abnormalities that are asymptomatic, any spinal surgery contemplated on a Marfan patient should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery.
Clinical trials have been conducted of the drug [[acetazolamide]] in the treatment of symptoms of [[dural ectasia]]. The treatment has demonstrated significant functional improvements in some sufferers.<ref name="spine">{{Cite web|url=http://www.spineuniverse.com/displayarticle.php/article922.html|title=Dural Ectasia in the Marfan Spine: Symptoms and Treatment|accessdate=2007-01-12|publisher=Scoliosis Research Society}}</ref> Other medical treatments, as well as physical therapy, are also available.
Treatment of a spontaneous [[pneumothorax]] is dependent on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in 1 to 2 weeks. Recurrent pneumothoraces might require chest surgery. Moderately sized pneumothoraces might need [[Chest tube|chest drain]] management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.
Research in laboratory [[mouse|mice]] has suggested that the [[angiotensin II receptor antagonist]] [[losartan]], which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome.<ref name="scimag">{{Cite journal | last = Habashi | first = Jennifer P. | coauthors = Daniel P. Judge, Tammy M. Holm, Ronald D. Cohn, Bart L. Loeys, Timothy K. Cooper, Loretha Myers, Erin C. Klein, Guosheng Liu, Carla Calvi, Megan Podowski, Enid R. Neptune, Marc K. Halushka, Djahida Bedja, Kathleen Gabrielson, Daniel B. Rifkin, Luca Carta, Francesco Ramirez, David L. Huso, and Harry C. Dietz | date = [[April 7]] [[2006]] | title = Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome | volume = 312 | issue = 5770 | pages = 117–121 | doi = 10.1126/science.1124287 | url = http://www.sciencemag.org/cgi/content/full/312/5770/117 | abstract = http://www.sciencemag.org/cgi/content/abstract/sci;312/5770/117 | news = http://www.news-medical.net/?id=17249 | journal = Science | pmid = 16601194}}</ref> A large [[clinical trial]] sponsored by the [[National Institutes of Health]] comparing the effects of losartan and [[atenolol]] on the aortas of Marfan patients is scheduled to begin in early 2007, coordinated by Johns Hopkins.<ref name="trial">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=147&menu_item_id=91|title=Atenolol vs. Losartan in Individuals with Marfan Syndrome Clinial Trial|accessdate=2007-01-12|publisher=National Marfan Foundation}}</ref>
Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members.
==Well known people==
Below is a list of prominent figures known or believed to have had Marfan syndrome:
<!--DO NOT ADD ANY NAME WITHOUT CITING A VALID REFERENCE-->
* [[Jonathan Larson]],<ref name"larson">{{Cite web|url=http://www.marfan.org/nmf/PreviewPressReleaseInfoRequestHandler.do?press_release_id=23}}</ref> author and composer of the hit musical [[Rent]]
* [[Flo Hyman]],<ref name="flo">{{Cite web|url=http://www.volleyhall.org/hyman.html|title=Flo Hyman|accessdate=2007-01-11|publisher=Volleyball Hall of Fame}}</ref> silver medal in Women's Volleyball (1984 Olympics)
* [[Joey Ramone]] from the punk rock band [[The Ramones]],<ref name="ramone">{{Cite web|url=http://www.independent.co.uk/life-style/health-and-wellbeing/features/the-long-and-short-of-it-marfan-syndrome-797095.html|title=Joey Ramone|accessdate=2008-07-08|publisher=The Independent}}</ref>
* [[Robert Johnson (musician)|Robert Johnson]],<ref name="robertj">{{Cite journal | last = Connel | first = David | date = [[September 2]] [[2006]] | title=Retrospective blues: Robert Johnson—an open letter to Eric Clapton | journal = British Medical Journal | volume = 333 | issue = 7566 | pages = 489 | url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1557967|accessdate=2007-01-11 | doi=10.1136/bmj.333.7566.489}}</ref> blues singer and guitarist
* [[Vincent Schiavelli]],<ref name="schiavelli">{{Cite web|url=http://www.marfan.org/nmf/PreviewPressReleaseInfoRequestHandler.do?press_release_id=24|title=NMF Mourns the Loss of its Honorary Co-Chair, Vincent Schiavelli|accessdate=2007-01-11|publisher=National Marfan Foundation}}</ref> actor
* [[Sir John Tavener]],<ref name="bbc">Richard Morrison, ''99 Names for God: John Tavener turns his back on Orthodoxy'', BBC Music, November 2004, page 30</ref> contemporary British composer
* [[Bradford Cox]],<ref name="deerhunter">{{Cite web|url=http://www.pitchforkmedia.com/article/feature/43085-interview-deerhunter|title=Pitchfork Feature: Interview: Deerhunter}}</ref> frontman of the bands [[Deerhunter]] and [[Atlas Sound]]
<!--DO NOT ADD ANY NAME WITHOUT CITING A VALID REFERENCE-->
===Speculative claims===
There are a number of historical persons believed to have suffered from Marfan's syndrome, but as proper Marfan diagnosis was not available before well into the [[20th century]] most such claims can only be considered as speculation based on sparse medical records and pictures.
<!--DO NOT ADD ANY NAME WITHOUT CITING A VALID REFERENCE-->
* [[Akhenaten]], Egyptian Pharaoh (claim based on early Amarna art style)<ref name="pharaoh">{{Cite web|url=http://www.marfan.ca/pharaoh.html|title=Did Akhenaten Suffer from Marfan's Syndrome?|accessdate=2007-01-11|publisher=Canadian Marfan Association}}</ref>
* [[Smenkhkare]]? (claim based on early Amarna art style)
* [[Meritaten]] (claim based on early Amarna art style)
* [[Meketaten]] (claim based on early Amarna art style)
* [[Ankhesenpaaten]] (claim based on early Amarna art style)
* [[Neferneferuaten Tasherit]] (claim based on early Amarna art style)
* [[Neferneferure]] (claim based on early Amarna art style)
* [[Setepenre]] (claim based on early Amarna art style)
* [[Tutankhamun]] (claim based on early Amarna art style and his mummy)
* [[Ankhesenpaaten-ta-sherit]]? (claim based on early Amarna art style)
* [[Charles de Gaulle]] (conjectural)<ref>[http://archive.salon.com/people/feature/2001/11/09/marfan/index.html Salon.com People | Does bin Laden have Marfan syndrome?<!-- Bot generated title -->]</ref>
* [[Niccolò Paganini]] (conjectural)<ref>[http://tafkac.org/celebrities/paganini_stories_myths.html], main reference being an article in the AMA journal by Dr. Myron R. Shoenfeld dated 2 January, 1978.</ref>
* [[Abraham Lincoln]]: A 1962 theory that Lincoln had Marfan syndrome has little currency today.<ref>[http://www.mayoclinic.com/health/marfan-syndrome/DS00540 Marfan syndrome - MayoClinic.com<!-- Bot generated title -->]</ref><ref>http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=cardio.chapter.978></ref> According to a 2007 theory, it is more likely that he had a different disorder, [[multiple endocrine neoplasia type 2|multiple endocrine neoplasia type 2B]], that caused skeletal features almost identical to Marfan syndrome.<ref>[http://www.physical-lincoln.com/ The Physical Lincoln<!-- Bot generated title -->]</ref>
<!--DO NOT ADD ANY NAME WITHOUT CITING A VALID REFERENCE-->
==Symptoms and diagnosis==
The following conditions may result from Marfan syndrome but may also occur in people without any known underlying disorder. A diagnosis of Marfan syndrome is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual. For example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual.
<div style="width:30%; float:left; padding:0 3% 0 0; border:none; overflow:hidden; clear:left;">
*[[Aortic aneurysm|Aortic aneurysm or dilation]]
*[[Arachnodactyly]]
*[[Bicuspid aortic valve]]
*[[Cysts]]
*[[Cystic medial necrosis]]
*[[Dural ectasia]]
*[[Ectopia lentis]]
</div>
<div style="width:30%; float:left; padding:0 3% 0 0; border:none; overflow:hidden; ">
*[[Flat feet]]
*[[Gigantism]]
*[[Glaucoma]]
*[[Hernias]]
*[[Hyperflex|Hypermobility of the joints]]
*[[Malocclusion]]
*[[Mitral valve prolapse]]
*[[Myopia]]
</div>
<div class="editmode" style="width:30%; float:left; padding:0 3% 0 0; border:none; overflow:hidden; ">
*[[COPD|Obstructive lung disease]]
*[[Osteoarthritis]]
*[[Pectus carinatum]] or [[pectus excavatum|excavatum]]
*[[Pneumothorax]]
*[[Retinal detachment]]
*[[Scoliosis]]
*[[Sleep apnea]]
*[[Stretch marks]]
</div><br clear="left" />
==Related disorders==
The following disorders have similar signs and symptoms of Marfan syndrome:
*[[Arachnodactyly|Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome]]
*[[Ehlers-Danlos syndrome]]
*[[Homocystinuria]]
*[[Loeys-Dietz syndrome]]
*[[MASS phenotype]]
*[[Stickler syndrome]]
*[[multiple endocrine neoplasia type 2|Multiple endocrine neoplasia, type 2B]]
==References==
{{reflist|2}}
==External links==
*{{DMOZ|Health/Conditions_and_Diseases/Musculoskeletal_Disorders/Connective_Tissue/Marfan_Syndrome/}}
*[http://www.nature.com/ejhg/journal/v15/n7/full/5201851a.html Marfan Syndrome Diagnosis (www.nature.com)]
*[http://www.marfan.org/ National Marfan Foundation]
*[http://www.marfantrust.org/ Marfan Trust UK]
{{Phakomatoses and other congenital malformations not elsewhere classified}}
[[Category:Cardiology]]
[[Category:Diseases involving the fasciae]]
[[Category:Genetic disorders]]
[[Category:Syndromes]]
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[[de:Marfan-Syndrom]]
[[es:Síndrome de Marfan]]
[[fr:Syndrome de Marfan]]
[[ko:마르팡 증후군]]
[[it:Sindrome di Marfan]]
[[he:תסמונת מרפן]]
[[nl:Marfansyndroom]]
[[ja:マルファン症候群]]
[[no:Marfans syndrom]]
[[nn:Marfans syndrom]]
[[pms:Sìndrom ëd Marfan]]
[[pl:Zespół Marfana]]
[[pt:Síndrome de Marfan]]
[[ru:Синдром Марфана]]
[[sr:Марфанов синдром]]
[[fi:Marfanin oireyhtymä]]
[[sv:Marfans syndrom]]
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