U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormality of connective tissue

MedGen UID:
871127
Concept ID:
C4025596
Anatomical Abnormality
HPO: HP:0003549

Definition

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of connective tissue

Professional guidelines

PubMed

Mokri B
Curr Opin Neurol 2003 Jun;16(3):319-26. doi: 10.1097/01.wco.0000073933.19076.c0. PMID: 12858068
Perloff JK, Child JS, Edwards JE
Am J Cardiol 1986 May 1;57(13):1124-9. doi: 10.1016/0002-9149(86)90686-7. PMID: 3706164

Recent clinical studies

Etiology

Asif MI, Kalra N, Sharma N, Jain N, Sharma M, Sinha R
Indian J Ophthalmol 2023 Jun;71(6):2385-2398. doi: 10.4103/ijo.IJO_286_22. PMID: 37322648Free PMC Article
Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Caliogna L, Guerrieri V, Annunziata S, Bina V, Brancato AM, Castelli A, Jannelli E, Ivone A, Grassi FA, Mosconi M, Pasta G
Int J Mol Sci 2021 Sep 20;22(18) doi: 10.3390/ijms221810149. PMID: 34576312Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payán-Gómez C
Clin Genet 2019 Feb;95(2):262-267. Epub 2018 Nov 27 doi: 10.1111/cge.13469. PMID: 30414172
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098Free PMC Article
Cao Y, Hong Y, Xu Y, Zhu Y, Xu X
J Orthop Surg Res 2018 Jun 25;13(1):159. doi: 10.1186/s13018-018-0870-6. PMID: 29940985Free PMC Article
O'Brien L, Jones DJ
Cochrane Database Syst Rev 2013 Sep 12;2013(9):CD003826. doi: 10.1002/14651858.CD003826.pub3. PMID: 24030657Free PMC Article
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article
Sibrack LA, Mazur EM, Hoffman R, Bollet AJ
Clin Rheum Dis 1982 Aug;8(2):443-54. PMID: 6754236

Prognosis

Elendu C, Amaechi DC, Elendu TC, Ibhiedu JO, Torubiri AO, Okoye OK
Medicine (Baltimore) 2023 Dec 1;102(48):e36499. doi: 10.1097/MD.0000000000036499. PMID: 38050214Free PMC Article
Asif MI, Kalra N, Sharma N, Jain N, Sharma M, Sinha R
Indian J Ophthalmol 2023 Jun;71(6):2385-2398. doi: 10.4103/ijo.IJO_286_22. PMID: 37322648Free PMC Article
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Załęski A, Gawrońska A, Albrecht P, Banasiuk M
Sci Rep 2022 Jan 19;12(1):1026. doi: 10.1038/s41598-022-05115-z. PMID: 35046501Free PMC Article
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Recent systematic reviews

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Murji A, Sanders AP, Monteiro I, Haiderbhai S, Matelski J, Walsh C, Abbott JA, Munro MG, Maheux-Lacroix S; International Federation of Gynecology and Obstetrics (FIGO) Committee on Menstrual Disorders and Related Health Impacts
Fertil Steril 2022 Oct;118(4):758-766. Epub 2022 Aug 17 doi: 10.1016/j.fertnstert.2022.06.031. PMID: 35985862
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Hsu CY, Chen LR, Chen KH
Int J Mol Sci 2020 Sep 18;21(18) doi: 10.3390/ijms21186846. PMID: 32961953Free PMC Article
Calì G, Timor-Tritsch IE, Palacios-Jaraquemada J, Monteaugudo A, Buca D, Forlani F, Familiari A, Scambia G, Acharya G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Feb;51(2):169-175. doi: 10.1002/uog.17568. PMID: 28661021

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...