Editing Marfan syndrome (section)

===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In 2010, the Ghent [[nosology]] was revised, and new diagnostic criteria superseded the previous agreement made in 1996.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>