Editing Marfan syndrome (section)

==Diagnosis==
[[File:Marfan Syndrome E00551 (CardioNetworks ECHOpedia).webm|thumb|Ultrasound of a person with Marfan syndrome, showing a dilated aortic root|left]]

Diagnostic criteria of MFS were agreed upon internationally in 1996.<ref>{{cite journal | vauthors = De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE | title = Revised diagnostic criteria for the Marfan syndrome | journal = American Journal of Medical Genetics | volume = 62 | issue = 4 | pages = 417–426 | date = April 1996 | pmid = 8723076 | doi = 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R }}</ref> However, Marfan syndrome is often difficult to diagnose in children, as they typically do not show symptoms until reaching pubescence.<ref name=":2">{{cite web|url=http://www.childrenshospital.org/conditions-and-treatments/conditions/m/marfan-syndrome/testing-and-diagnosis|title=Marfan Syndrome {{!}} Testing and Diagnosis {{!}} Boston Children's Hospital|website=www.childrenshospital.org|access-date=2020-03-02|archive-date=2020-03-02|archive-url=https://web.archive.org/web/20200302201424/http://www.childrenshospital.org/conditions-and-treatments/conditions/m/marfan-syndrome/testing-and-diagnosis|url-status=dead}}</ref> A diagnosis 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{{spnd}}for example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. The following conditions may result from MFS, but may also occur in people without any known underlying disorder.

{{div col|colwidth=20em}}
* [[Aortic aneurysm|Aortic aneurysm or dilation]]<ref name="Marfan Syndrome">{{cite web|url= https://www.lecturio.com/concepts/marfan-syndrome/|title= Marfan Syndrome|website= The Lecturio Medical Concept Library|access-date= 10 August 2021|archive-date= 23 January 2021|archive-url= https://web.archive.org/web/20210123044738/https://www.lecturio.com/concepts/marfan-syndrome/|url-status= live}}</ref>
* [[Arachnodactyly]]
* [[GERD]]
* [[Bicuspid aortic valve]]
* [[Cysts]]
* [[Cystic medial necrosis]]
* [[Degenerative disc disease]]
* [[Deviated septum]]<ref>{{cite journal | vauthors = Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM | title = Marfan syndrome. Long-term survival and complications after aortic aneurysm repair | journal = Circulation | volume = 91 | issue = 3 | pages = 728–733 | date = February 1995 | pmid = 7828300 | doi = 10.1161/01.CIR.91.3.728 }}</ref>
* [[Dural ectasia]]
* Early [[cataract]]s
* Early [[glaucoma]]<ref name="ucsfhealth">{{cite web |url         = http://www.ucsfhealth.org/adult/medical_services/heart_care/marfan/conditions/marfan/signs.html |title       = Marfan Syndrome: Signs and Symptoms |publisher   = www.ucsfhealth.org |access-date  = 2009-08-28 |url-status     = live |archive-url  = https://web.archive.org/web/20100617004957/http://www.ucsfhealth.org/adult/medical_services/heart_care/marfan/conditions/marfan/signs.html |archive-date = 2010-06-17 }}</ref>
* Early [[osteoarthritis]]<ref>{{cite web |url         = http://marfantrust.org/about-marfan-syndrome/what-is-marfan-syndrome/ |publisher   = Marfan Trust |title       = What is Marfan Syndrome? |access-date  = 2015-06-01 |url-status     = dead |archive-url  = https://web.archive.org/web/20150610111433/http://marfantrust.org/about-marfan-syndrome/what-is-marfan-syndrome/ |archive-date = 2015-06-10 }}</ref>
* [[Ectopia lentis]]
* [[Emphysema]]<ref>
{{cite web |url         = http://www.ctds.info/marfan_syndrome.html |title       = Marfan Syndrome: The Similarities to Copper Deficiency |publisher   = www.ctds.info |access-date  = 2009-08-29 |url-status     = live |archive-url  = https://web.archive.org/web/20090221035522/http://ctds.info/marfan_syndrome.html |archive-date = 2009-02-21 }}</ref>
* [[iris (eye)|Iris]] [[coloboma]]<ref name="MedlinePlus">{{MedlinePlusEncyclopedia|000418|Marfan syndrome}}</ref>
* Above-average height
* [[Heart palpitation]]s<ref>
{{cite web |url         = http://ghr.nlm.nih.gov/condition%3Dmarfansyndrome |title       = Marfan syndrome |work        = Genetics Home Reference |publisher   = U.S. National Institute of Health |access-date  = 2009-08-28 |url-status     = live |archive-url  = https://web.archive.org/web/20090829054104/http://ghr.nlm.nih.gov/condition%3Dmarfansyndrome |archive-date = 2009-08-29 }}</ref>
* [[Hernias]]<ref>{{cite journal | vauthors = Fitzgibbons RJ, Forse RA | title = Clinical practice. Groin hernias in adults | journal = The New England Journal of Medicine | volume = 372 | issue = 8 | pages = 756–763 | date = February 2015 | pmid = 25693015 | doi = 10.1056/NEJMcp1404068 }}</ref>
* [[High-arched palate]]
* [[Hypermobility (joints)|Hypermobility of the joints]]
* [[Kyphosis]] (hunched back)
* Leaky [[heart valve]]
* [[Malocclusion]]
* [[Micrognathia]] (small lower jaw)<ref name="MedlinePlus" />
* [[Mitral valve prolapse]]<ref name="Marfan Syndrome"/>
* [[Myopia]] (nearsightedness)
* [[Chronic obstructive pulmonary disease|Obstructive lung disease]]
* [[Osteopenia]] (low bone density)<ref>{{cite journal | vauthors = Kohlmeier L, Gasner C, Bachrach LK, Marcus R | title = The bone mineral status of patients with Marfan syndrome | journal = Journal of Bone and Mineral Research | volume = 10 | issue = 10 | pages = 1550–1555 | date = October 1995 | pmid = 8686512 | doi = 10.1002/jbmr.5650101017 | s2cid = 23492402 }}</ref>
* [[Pectus carinatum]] or [[pectus excavatum|excavatum]]
* Pes planus ([[flat feet]])<ref>Northwestern Memorial Center for Heart Valve Disease. [http://www.nmh.org/nm/heart-valve-disease-marfan-syndrome-diagnosis-prognosis Marfan syndrome] {{webarchive|url=https://web.archive.org/web/20120422194318/http://www.nmh.org/nm/heart-valve-disease-marfan-syndrome-diagnosis-prognosis |date=2012-04-22 }}</ref>
* [[Pneumothorax]] (collapsed lung)<ref>{{cite web|url= https://www.lecturio.com/concepts/pneumothorax/|title= Pneumothorax|website= The Lecturio Medical Concept Library|access-date= 10 August 2021|archive-date= 10 August 2021|archive-url= https://web.archive.org/web/20210810051038/https://www.lecturio.com/concepts/pneumothorax/|url-status= live}}</ref>
* [[Retinal detachment]]<ref>{{cite web|url= https://www.lecturio.com/concepts/retinal-detachment/|title= Retinal Detachment|website= The Lecturio Medical Concept Library|date= 21 October 2020|access-date= 10 August 2021|archive-date= 10 August 2021|archive-url= https://web.archive.org/web/20210810051025/https://www.lecturio.com/concepts/retinal-detachment/|url-status= live}}</ref>
* [[Scoliosis]]<ref>{{cite web|url= https://www.lecturio.com/concepts/scoliosis/|title= Scoliosis|website= The Lecturio Medical Concept Library|access-date= 10 August 2021|archive-date= 10 August 2021|archive-url= https://web.archive.org/web/20210810051024/https://www.lecturio.com/concepts/scoliosis/|url-status= live}}</ref>
* [[Sleep apnea]]<ref name="Kohler et al 2009" />
* [[Stretch marks]] not from pregnancy<ref name="nmf" /> or obesity
* Teeth crowded<ref name="nmf">{{cite web |url  = http://www.marfan.org/marfan/2320/Features#Other |title  = About Marfan Syndrome: Features |publisher  = National Marfan Foundation |access-date  = 2009-08-28 |url-status  = dead |archive-url  = https://web.archive.org/web/20090820135536/http://www.marfan.org/marfan/2320/Features/#Other |archive-date  = 2009-08-20 }}</ref>
* "Narrow, thin face"<ref name="MedlinePlus" />
* [[Temporomandibular joint dysfunction]] (TMD)<ref>
{{cite web |url  = http://www.marfan.org/marfan/2711/Dental-Issues#TMJ |publisher  = National Marfan Foundation |title  = Living with Marfan Syndrome: Dental issues |access-date  = 2009-08-28 |url-status  = dead |archive-url  = https://web.archive.org/web/20090906014018/http://www.marfan.org/marfan/2711/Dental-Issues#TMJ |archive-date  = 2009-09-06 }}</ref>
{{div col end}}

===Revised Ghent nosology===
{{Anchor|Ghent criteria|Ghent criteria}}
[[File:Marfan thumb sign.svg|thumb|upright|Thumb sign; ''upper'': normal, ''lower'': Marfan syndrome]]
In 2010, the Ghent [[nosology]] was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The seven new criteria can lead to a diagnosis:<ref name="Marfan.org Revised Ghent">{{cite web|url=http://www.marfan.org/marfan/4265/2010-Revised-Ghent-Nosology|publisher=National Marfan Foundation|title=2010 Revised Ghent Nosology|access-date=2011-01-31|url-status=dead|archive-url=https://web.archive.org/web/20110114065116/http://www.marfan.org/marfan/4265/2010-Revised-Ghent-Nosology|archive-date=2011-01-14}}</ref><ref name="Loeys2010">{{cite journal | vauthors = Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM | display-authors = 6 | title = The revised Ghent nosology for the Marfan syndrome | journal = Journal of Medical Genetics | volume = 47 | issue = 7 | pages = 476–485 | date = July 2010 | pmid = 20591885 | doi = 10.1136/jmg.2009.072785 | url = https://biblio.ugent.be/publication/1013955/file/1042316.pdf#page=2 | url-status = live | hdl-access = free | format = PDF | s2cid = 13895128 | hdl = 1854/LU-1013955 | archive-url = https://web.archive.org/web/20160110163725/http://biblio.ugent.be/publication/1013955/file/1042316.pdf | archive-date = 10 January 2016 | oclc = 857424767 }}</ref>

In the absence of a family history of MFS:

# Aortic root Z-score ≥ 2 AND ectopia lentis
# Aortic root Z-score ≥ 2 AND an FBN1 mutation
# Aortic root Z-score ≥ 2 AND a systemic score* > 7 points
# Ectopia lentis AND an FBN1 mutation with known aortic pathology

In the presence of a family history of MFS (as defined above):
# [[Ectopia lentis]]
# Systemic score* ≥ 7
# Aortic root Z-score ≥ 2
* Points for systemic score:
** Wrist AND thumb sign = 3 (wrist OR thumb sign = 1)
** Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1)
** Hindfoot deformity = 2 (plain pes planus = 1)
** [[Dural ectasia]] = 2
** [[Protrusio acetabuli]] = 2
** [[pneumothorax]] = 2
** Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1
** [[Scoliosis]] or thoracolumbar [[kyphosis]] = 1
** Reduced elbow extension = 1
** Facial features (3/5) = 1 ([[dolichocephaly]], [[enophthalmos]], downslanting [[palpebral fissure]]s, malar [[hypoplasia]], [[retrognathia]])
** Skin striae ([[stretch marks]]) = 1
** [[Myopia]] > 3 diopters = 1
** [[Mitral valve prolapse]] = 1

The thumb sign (Steinberg's sign) is elicited by asking the person to [[flexion|flex]] the thumb as far as possible and then close the fingers over it. A positive thumb sign is where the entire distal [[Phalanx bone|phalanx]] is visible beyond the [[ulna]]r border of the hand, caused by a combination of hypermobility of the thumb as well as a thumb which is longer than usual.{{citation needed|date=September 2021}}

The wrist sign (Walker-Murdoch sign) is elicited by asking the person to curl the thumb and fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and long fingers.<ref>Julia A. McMillan, Ralph D. Feigin, Catherine DeAngelis, M. Douglas Jones. ''Oski's Pediatrics: Principles & Practice''. Lippincott Williams & Wilkins, 2006</ref>

===Differential diagnosis===
Many other disorders can produce the same type of body characteristics as Marfan syndrome.<ref>{{cite book |vauthors=Rimoin DL, Connor JM, Pyeritz RE, etal |title=Emery and RImoin's Principles and Practice of Medical Genetics. 5th ed.|location=Philadelphia, Pennsylvania|publisher=Churchill Livingstone Elsevier|year=2007}}
</ref> [[Genetic testing]] and evaluating other signs and symptoms can help to differentiate these. The following are some of the disorders that can manifest as "marfanoid":{{citation needed|date=September 2021}}
* [[Congenital contractural arachnodactyly]], also known as Beals–Hecht syndrome
* [[Ehlers–Danlos syndrome]]
* [[Homocystinuria]]
* [[Loeys–Dietz syndrome]]
* [[MASS phenotype]]
* [[multiple endocrine neoplasia type 2b|Multiple endocrine neoplasia, type 2B]]
* [[Shprintzen–Goldberg syndrome]]<ref>{{cite book |author=Greally MT |chapter=Shprintzen-Goldberg |chapter-url=http://www.ncbi.nlm.nih.gov/books// |editor1=Pagon RA |editor2=Bird TD |editor3=Dolan CR |title=GeneReviews™ [Internet] (1993–) |publisher=University of Washington, Seattle |location=Seattle WA |year=2010 |id=NBK1277 |pmid=20301454 |display-editors=etal |access-date=2012-04-29 |archive-date=2021-05-30 |archive-url=https://web.archive.org/web/20210530084155/https://www.ncbi.nlm.nih.gov/books/ |url-status=live }}</ref>
* [[Stickler syndrome]]