Просмотр кода страницы MASS syndrome

{{Infobox medical condition (new)
| name            = MASS syndrome
| synonyms        = Mitral valve-aorta-skeleton-skin syndrome<ref>{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: MASS syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99715 |website=www.orpha.net |accessdate=27 August 2019 |language=en}}</ref>
| image           = File:Autosomal dominant - en.svg
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| caption         = This condition is inherited in an autosomal dominant manner
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| field           = [[Medical condition]]
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'''MASS syndrome''' is a [[medical disorder]] of the connective tissue similar to [[Marfan syndrome]].
MASS stands for [[mitral valve prolapse|'''m'''itral valve prolapse]], [[Aorta|'''a'''ortic root]] diameter at upper limits of normal for body size, [[stretch marks|'''s'''tretch marks]] of the skin, and [[Skeleton|'''s'''keletal conditions]] similar to Marfan syndrome. It is caused by a mutation in the ''[[FBN1]]'' gene, which encodes [[Fibrillin|fibrillin-1]].<ref name="marfan">{{cite web |last= |first= |authorlink= |title=MASS PHENOTYPE |work= |publisher=Marfan Foundation |date= |url=https://www.marfan.org/mass-phenotype |format= |doi= |accessdate=19 February 2018 }}</ref> Fibrillin-1 is an extracellular matrix protein that is found in [[microfibril]]s;<ref name="pmid12413333">{{cite journal | vauthors = Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A | title = A recurring FBN1 gene mutation in neonatal Marfan syndrome | journal = Arch Pediatr Adolesc Med | volume = 156 | issue = 11 | pages = 1081–5 | date = November 2002 | pmid = 12413333 | doi = 10.1001/archpedi.156.11.1081| doi-access =  }}</ref> defects in the fibrillin-1 protein cause the malfunctioning of microfibrils,<ref name=":02">{{cite web|url=https://medlineplus.gov/genetics/gene/fbn1/|title=FBN1 gene|website=Genetics Home Reference|publisher=NIH|access-date=8 November 2017}}</ref> which results in improper stretching<ref name=":02" /> of ligaments, blood vessels, and skin.

Treatment options for MASS syndrome are largely determined on a case-by-case basis and generally address the symptoms as opposed to the cause of the disorder.<ref>{{cite web |url=https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome |title=
MASS phenotype|author=<!--Not stated--> |date=August 30, 2018 |website=GARD |publisher=NIH |access-date= October 28, 2018}}</ref> Due to the similarities between MASS syndrome and Marfan syndrome, the treatment plans are also similar.<ref name="pmid22237449">{{cite journal | vauthors = Pyeritz RE | title = Evaluation of the adolescent or adult with some features of Marfan syndrome | journal = Genet. Med. | volume = 14 | issue = 1 | pages = 171–7 | date = January 2012 | pmid = 22237449 |issn = 1098-3600| doi = 10.1038/gim.2011.48 | doi-access = free }}</ref>

Other possible symptoms are [[mitral valve prolapse]], a large aortic root diameter, and [[myopia]].<ref name="marfan" /> The skeletal features found in MASS syndrome include curvature of the spine ([[scoliosis]]), chest wall deformities, and joint [[Hypermobility (joints)|hypermobility]].<ref name="marfan" />

MASS syndrome and Marfan syndrome are overlapping [[connective tissue disorders]]. Both can be caused by mutations in the gene encoding a protein called fibrillin. These conditions share many of the same signs and symptoms including long limbs and fingers, chest wall abnormalities (indented chest bone or protruding chest bone), flat feet, scoliosis, mitral valve prolapse, loose or hypextensible joints, highly arched roof of the mouth, and mild dilatation of the aortic root. Unlike in Marfan syndrome, [[aneurysm]] does not develop.<ref name="marfan" />

Individuals with MASS syndrome do not have progressive aortic enlargement or [[Ectopia lentis|lens dislocation]], while people with Marfan syndrome do. Skin involvement in MASS syndrome is typically limited to stretch marks ([[striae distensae]]). Also, the skeletal manifestations of MASS syndrome are generally mild.{{citation needed|date=August 2019}}

==References==
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== External links ==
{{Medical resources
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|  OMIM            = 04308
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|  MeSH            = C536030
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|  Orphanet        = 99715
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{{Cytoskeletal defects}}

[[Category:Genetics]]
[[Category:Cytoskeletal defects]]