Editing Marfan syndrome (section)

==Signs and symptoms==
[[File:MarfanChest.jpg|thumb|An anterior chest wall deformity, [[pectus excavatum]], in a person with Marfan syndrome]]
[[File:Marfan Patient.jpeg|thumb]]

More than 30 [[Medical sign|signs]] and [[symptom]]s are variably associated with Marfan syndrome. The most prominent of these affect the skeletal, cardiovascular, and ocular systems, but all fibrous connective tissue throughout the body can be affected.{{Citation needed|date=October 2024}}

===Skeletal system===
Most of the readily visible signs are associated with the [[human skeleton|skeletal system]]. Many people with Marfan syndrome grow to above-average height, and some have [[Dolichostenomelia|disproportionately long, slender limbs]] with thin, weak wrists and [[Arachnodactyly|long fingers and toes]].

The&nbsp;Steinberg sign, also known as the&nbsp;thumb sign, is one of the clinical examination tests for&nbsp;Marfan disease&nbsp;in the hands. It is a clinical test in which the tip of the thumb extends beyond the palm when the thumb is clasped in the clenched hand.<ref>{{cite web | url=https://www.scmp.com/lifestyle/health/article/1368777/lifelong-drug-therapy-key-coping-marfan-syndrome | title=Lifelong drug therapy the key to coping with Marfan syndrome | newspaper=[[South China Morning Post]] | date=2 December 2013 | access-date=18 February 2022 | archive-date=18 February 2022 | archive-url=https://web.archive.org/web/20220218190133/https://www.scmp.com/lifestyle/health/article/1368777/lifelong-drug-therapy-key-coping-marfan-syndrome | url-status=live }}</ref><ref>{{cite journal
 | url=https://academic.oup.com/qjmed/article/108/6/509/1547885
 | title=Marfan syndrome and the thumb sign
 | journal=[[QJM]]
 | volume=108
 | issue=6
 | page=509
 | date=19 November 2014
 | pmid=25411342
 | last1=Zoabi
 | first1=A.
 | last2=Lavie
 | first2=G.
 | doi=10.1093/qjmed/hcu224
 | doi-access=free
 | access-date=18 February 2022
 | archive-date=18 February 2022
 | archive-url=https://web.archive.org/web/20220218190712/https://academic.oup.com/qjmed/article/108/6/509/1547885
 | url-status=live
 }}</ref><ref>{{cite web| url = https://radiopaedia.org/articles/steinberg-sign-marfan-disease| title = Steinberg sign (Marfan disease)| website = [[Radiopaedia]]| date = 26 December 2016| access-date = 2021-10-17| archive-date = 2021-10-17| archive-url = https://web.archive.org/web/20211017055618/https://radiopaedia.org/articles/steinberg-sign-marfan-disease| url-status = live}}</ref>

Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine [[scoliosis]], thoracic [[lordosis]], abnormal indentation (''[[pectus excavatum]]'') or protrusion (''[[pectus carinatum]]'') of the [[sternum]], [[hypermobility (joints)|abnormal joint flexibility]], a [[high-arched palate]] with crowded teeth and an overbite, [[flat feet]], [[hammer toe]]s, stooped shoulders, and unexplained [[stretch marks]] on the skin. It can also cause pain in the joints, bones, and muscles. Some people with Marfan have [[speech disorder]]s resulting from symptomatic high palates and small jaws. Early [[osteoarthritis]] may occur. Other signs include limited range of motion in the hips due to the [[femoral head]] protruding into [[protrusio acetabuli|abnormally deep hip sockets]].<ref name="Van de Velde 2006">{{cite journal | vauthors = Van de Velde S, Fillman R, Yandow S | title = Protrusio acetabuli in Marfan syndrome. History, diagnosis, and treatment | journal = The Journal of Bone and Joint Surgery. American Volume | volume = 88 | issue = 3 | pages = 639–646 | date = March 2006 | pmid = 16510833 | doi = 10.2106/JBJS.E.00567 | doi-broken-date = 18 March 2025 }}</ref><ref name=":1" />

===Eyes===
[[File:Lens marfan.gif|thumb|[[Lens dislocation]] in Marfan syndrome with the lens being kidney-shaped and resting against the [[ciliary body]]]]
In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial [[ectopia lentis|lens dislocation]], where the lens is shifted out of its normal position.<ref name=":1" /> This occurs because of weakness in the [[zonule of Zinn|ciliary zonules]], the connective tissue strands which suspend the lens within the eye. The mutations responsible for Marfan syndrome weaken the zonules and cause them to stretch. The inferior zonules are most frequently stretched resulting in the lens shifting upwards and outwards, but it can shift in other directions as well. [[Myopia|Nearsightedness]] (myopia), and [[astigmatism (eye)|blurred vision]] are common due to connective tissue defects in the eye.<ref name=":3">{{cite web|url=https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome|title=About Marfan Syndrome|website=Genome.gov|language=en|access-date=2020-03-02|archive-date=2020-03-02|archive-url=https://web.archive.org/web/20200302201425/https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome|url-status=live}}</ref> Farsightedness can also result particularly if the lens is highly subluxated. [[Ectopia lentis|Subluxation]] (partial dislocation) of the [[lens (anatomy)|lens]] can be detected clinically in about 60% of people with Marfan syndrome by the use of a [[Slit lamp|slit-lamp]] biomicroscope.<ref name=":3" /> If the lens subluxation is subtle, then imaging with high-resolution ultrasound biomicroscopy might be used.<ref>{{Cite journal |last1=Liu |first1=Yi-Zhi |last2=Liu |first2=Yu-Hua |last3=Wu |first3=Ming-Xing |last4=Luo |first4=Li-Xia |last5=Zhang |first5=Xin-Yu |last6=Cai |first6=Xiao-Yu |last7=Chen |first7=Xiu-Qi |date=March 2004 |title=[Clinical applications of ultrasound biomicroscopy in diagnosis and treatment of lens subluxation] |url=https://pubmed.ncbi.nlm.nih.gov/15307991/ |journal=[Zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology |volume=40 |issue=3 |pages=186–189 |issn=0412-4081 |pmid=15307991 |access-date=2022-10-09 |archive-date=2022-10-09 |archive-url=https://web.archive.org/web/20221009080041/https://pubmed.ncbi.nlm.nih.gov/15307991/ |url-status=live }}</ref>

Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, [[strabismus]], [[exotropia]], and [[esotropia]].<ref name=":1" /> Those with MFS are also at a high risk for early [[glaucoma]] and early [[cataract]]s.<ref name=":3" />

===Cardiovascular system===
The most serious signs and symptoms associated with Marfan syndrome involve the [[circulatory system|cardiovascular system]]: undue [[fatigue (medical)|fatigue]], [[dyspnea|shortness of breath]], [[heart palpitations]], [[tachycardia|racing heartbeats]], or [[angina pectoris|chest pain]] radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation. A [[heart murmur]], abnormal reading on an [[electrocardiogram|ECG]], or symptoms of [[angina pectoris|angina]] can indicate further investigation. The signs of regurgitation from [[prolapse]] of the mitral or aortic valves (which control the flow of blood through the heart) result from [[familial thoracic aortic aneurysm|cystic medial degeneration]] of the valves, which is commonly associated with MFS (see [[mitral valve prolapse]], [[aortic regurgitation]]). However, the major sign that would lead a doctor to consider an underlying condition is a [[Annuloaortic ectasia|dilated aorta]] or an [[aortic aneurysm]]. Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or [[aortic dissection]], a surgical emergency. An aortic dissection is most often fatal and presents with pain radiating down the back, giving a tearing sensation.<ref>{{Cite web |title=Aortic dissection - Symptoms and causes |url=https://www.mayoclinic.org/diseases-conditions/aortic-dissection/symptoms-causes/syc-20369496 |access-date=2022-10-09 |website=Mayo Clinic |language=en |archive-date=2022-10-09 |archive-url=https://web.archive.org/web/20221009080040/https://www.mayoclinic.org/diseases-conditions/aortic-dissection/symptoms-causes/syc-20369496 |url-status=live }}</ref>

Because underlying connective tissue abnormalities cause MFS, the incidence of [[Wound dehiscence|dehiscence]] of prosthetic mitral valve is increased.<ref name="Braunwald-2005">{{cite book|author=Zipes, Libby Bonow Braunwald| title=Braunwald's Heart Disease ~ A Textbook of Cardiovascular Medicine, Seventh Edition|publisher=Elseview Saunders|year=2005|location=United States of America|page=1894|isbn=978-0-7216-0509-8}}</ref> Care should be taken to attempt repair of damaged heart valves rather than replacement.<ref>{{Cite journal |last1=Mick |first1=Stephanie L. |last2=Keshavamurthy |first2=Suresh |last3=Gillinov |first3=A. Marc |date=May 2015 |title=Mitral valve repair versus replacement |journal=Annals of Cardiothoracic Surgery |volume=4 |issue=3 |pages=230–237 |doi=10.3978/j.issn.2225-319X.2015.03.01 |issn=2225-319X |pmc=4533076 |pmid=26309824}}</ref>

===Lungs===
Individuals with Marfan syndrome may be affected by various lung-related problems. One study found that only 37% of the patient sample studied (mean age 32±14 years; M 45%) had normal lung function.<ref>{{cite journal| vauthors = Cerveri I, Corsico A |title=Pulmonary involvement in patients with Marfan syndrome.|journal=[[European Respiratory Journal]]|year=2012|volume=40|page=3124}}</ref> Spontaneous [[pneumothorax]] is common.<ref>{{cite journal | vauthors = Siepe M, Löffelbein F | title = [The Marfan syndrome and related connective tissue disorders] | journal = Medizinische Monatsschrift für Pharmazeuten | volume = 32 | issue = 6 | pages = 213–219 | date = June 2009 | pmid = 19554831 }}</ref> 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. Other possible pulmonary manifestations of MFS include [[sleep apnea]]<ref name="Kohler et al 2009">{{cite journal | vauthors = Kohler M, Blair E, Risby P, Nickol AH, Wordsworth P, Forfar C, Stradling JR | title = The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome | journal = Thorax | volume = 64 | issue = 2 | pages = 162–166 | date = February 2009 | pmid = 18852161 | doi = 10.1136/thx.2008.102756 | doi-access = free }}</ref> and [[idiopathic]] obstructive lung disease.<ref>{{cite journal | vauthors = Corsico AG, Grosso A, Tripon B, Albicini F, Gini E, Mazzetta A, Di Vincenzo EM, Agnesi ME, Tsana Tegomo E, Ronzoni V, Arbustini E, Cerveri I | display-authors = 6 | title = Pulmonary involvement in patients with Marfan Syndrome | journal = Panminerva Medica | volume = 56 | issue = 2 | pages = 177–182 | date = June 2014 | pmid = 24994580 | url = https://www.minervamedica.it/en/journals/panminerva-medica/article.php?cod=R41Y2014N02A0177 | access-date = 2021-11-20 | archive-date = 2021-11-20 | archive-url = https://web.archive.org/web/20211120121723/https://www.minervamedica.it/en/journals/panminerva-medica/article.php?cod=R41Y2014N02A0177 | url-status = live }}</ref> Pathologic changes in the lungs have been described such as [[cyst]]ic changes, [[emphysema]], [[pneumonia]], [[bronchiectasis]], [[Blister|bullae]], apical [[fibrosis]] and congenital malformations such as middle lobe hypoplasia.<ref name="Dyhdalo 2011">{{cite journal | vauthors = Dyhdalo K, Farver C | title = Pulmonary histologic changes in Marfan syndrome: a case series and literature review | journal = American Journal of Clinical Pathology | volume = 136 | issue = 6 | pages = 857–863 | date = December 2011 | pmid = 22095370 | doi = 10.1309/AJCP79SNDHGKQFIN | doi-access = free }}</ref>

===Nervous system===
[[Dural ectasia]], the weakening of the connective tissue of the dural sac encasing the [[spinal cord]], can result in a loss of [[quality of life]]. It 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{{spnd}}symptoms which usually diminish when lying flat. On [[X-ray]], however, dural ectasia is not often visible in the early stages. A worsening of symptoms might warrant an [[MRI]] of the lower spine. Dural ectasia that has progressed to this stage would appear in an MRI as a dilated pouch wearing away at the [[lumbar vertebrae]].<ref name="mayo-gen">{{cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|access-date=January 12, 2007|publisher=Mayo Clinic|url-status=live|archive-url=https://web.archive.org/web/20070110144623/http://mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION%3D2|archive-date=January 10, 2007}}</ref> Other spinal issues associated with MFS include [[degenerative disc disease]], spinal [[cyst]]s, and [[dysautonomia|dysfunction of the autonomic nervous system]].{{citation needed|date=September 2021}}