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

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
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Cobben JM, Oostra RJ, van Dijk FS
Eur J Med Genet 2014 Aug;57(8):414-7. Epub 2014 May 10 doi: 10.1016/j.ejmg.2014.04.017. PMID: 24821303
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Adkins JC, Kiesewetter WB
Surg Clin North Am 1976 Apr;56(2):379-94. doi: 10.1016/s0039-6109(16)40884-4. PMID: 1265603

Diagnosis

Patoulias I, Rahmani E, Patoulias D
Folia Med Cracov 2019;59(4):71-78. doi: 10.24425/fmc.2019.131381. PMID: 31904751
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
Haque S, Bilal Shafi BB, Kaleem M
Radiographics 2012 Mar-Apr;32(2):557-71. doi: 10.1148/rg.322105143. PMID: 22411949
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

Therapy

Määttä J
Curr Probl Dermatol 2022;56:205-211. Epub 2023 Jun 1 doi: 10.1159/000529556. PMID: 37263224
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
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

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
Chambers HG, Chambers RC
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S53-S55. doi: 10.1097/BPO.0000000000001386. PMID: 31169650
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
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600
Adkins JC, Kiesewetter WB
Surg Clin North Am 1976 Apr;56(2):379-94. doi: 10.1016/s0039-6109(16)40884-4. PMID: 1265603

Clinical prediction guides

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
Cobben JM, Oostra RJ, van Dijk FS
Eur J Med Genet 2014 Aug;57(8):414-7. Epub 2014 May 10 doi: 10.1016/j.ejmg.2014.04.017. PMID: 24821303
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
Ramirez F, Pereira L, Zhang H, Lee B
Bioessays 1993 Sep;15(9):589-94. doi: 10.1002/bies.950150904. PMID: 8240311

Recent systematic reviews

Bril F, Ezeh U, Amiri M, Hatoum S, Pace L, Chen YH, Bertrand F, Gower B, Azziz R
J Clin Endocrinol Metab 2023 Dec 21;109(1):10-24. doi: 10.1210/clinem/dgad356. PMID: 37329216Free PMC Article
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
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
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
Spring LK, Krakowski AC, Alam M, Bhatia A, Brauer J, Cohen J, Del Rosso JQ, Diaz L, Dover J, Eichenfield LF, Gurtner GC, Hanke CW, Jahnke MN, Kelly KM, Khetarpal S, Kinney MA, Levy ML, Leyden J, Longaker MT, Munavalli GS, Ozog DM, Prather H, Shumaker PR, Tanzi E, Torres A, Velez MW, Waldman AB, Yan AC, Zaenglein AL
JAMA Dermatol 2017 Aug 1;153(8):802-809. doi: 10.1001/jamadermatol.2017.2077. PMID: 28658462

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...