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Ehlers-Danlos syndrome, familial joint laxity type(EDS11)

MedGen UID:
120629
Concept ID:
C0268349
Disease or Syndrome
Synonyms: Articular hypermobility syndrome; EDS 11 (formerly); EDS XI; EDS11; Ehlers-danlos syndrome, type 11 (formerly); EHLERS-DANLOS SYNDROME, TYPE XI; Familial joint instability syndrome; Joint instability syndrome; Joint laxity, familial
SNOMED CT: Ehlers-Danlos syndrome, familial joint laxity type (71322004); Ehlers-Danlos syndrome, type 11 (71322004); Familial joint instability syndrome (71322004); Familial joint laxity (71322004); Familial generalized articular hypermobility (71322004); Ehlers-Danlos syndrome type XI (71322004); Familial articular hypermobility syndrome (71322004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007842
OMIM®: 147900
Orphanet: ORPHA2295

Definition

A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEhlers-Danlos syndrome, familial joint laxity type
Follow this link to review classifications for Ehlers-Danlos syndrome, familial joint laxity type in Orphanet.

Professional guidelines

PubMed

Ritelli M, Chiarelli N, Cinquina V, Vezzoli M, Venturini M, Colombi M
Am J Med Genet A 2024 Feb;194(2):174-194. Epub 2023 Sep 29 doi: 10.1002/ajmg.a.63426. PMID: 37774134
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Bennett SE, Walsh N, Moss T, Palmer S
Disabil Rehabil 2021 Mar;43(6):795-804. Epub 2019 Jul 18 doi: 10.1080/09638288.2019.1641848. PMID: 31318301

Recent clinical studies

Etiology

Monaco A, Choi D, Uzun S, Maitland A, Riley B
Immunol Res 2022 Aug;70(4):419-431. Epub 2022 Apr 21 doi: 10.1007/s12026-022-09280-1. PMID: 35449490Free PMC Article
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Castori M, Colombi M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):1-5. doi: 10.1002/ajmg.c.31432. PMID: 25821089

Diagnosis

Monaco A, Choi D, Uzun S, Maitland A, Riley B
Immunol Res 2022 Aug;70(4):419-431. Epub 2022 Apr 21 doi: 10.1007/s12026-022-09280-1. PMID: 35449490Free PMC Article
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Castori M, Colombi M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):1-5. doi: 10.1002/ajmg.c.31432. PMID: 25821089
Ghibellini G, Brancati F, Castori M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):107-16. Epub 2015 Feb 5 doi: 10.1002/ajmg.c.31424. PMID: 25654988

Therapy

Russek LN, LaShomb EA, Ware AM, Wesner SM, Westcott V
Physiother Res Int 2016 Mar;21(1):22-35. Epub 2014 Dec 12 doi: 10.1002/pri.1613. PMID: 25504938
Palmer S, Bailey S, Barker L, Barney L, Elliott A
Physiotherapy 2014 Sep;100(3):220-7. Epub 2013 Oct 5 doi: 10.1016/j.physio.2013.09.002. PMID: 24238699

Prognosis

Monaco A, Choi D, Uzun S, Maitland A, Riley B
Immunol Res 2022 Aug;70(4):419-431. Epub 2022 Apr 21 doi: 10.1007/s12026-022-09280-1. PMID: 35449490Free PMC Article
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF
Am J Med Genet A 2015 Jun;167(6):1196-203. Epub 2015 Apr 2 doi: 10.1002/ajmg.a.36997. PMID: 25845371
Pacey V, Tofts L, Adams RD, Munns CF, Nicholson LL
J Paediatr Child Health 2015 Jul;51(7):689-95. Epub 2015 Jan 26 doi: 10.1111/jpc.12826. PMID: 25622801
Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, Calzavara-Pinton P, Colombi M
Am J Med Genet A 2013 May;161A(5):1143-7. Epub 2013 Mar 26 doi: 10.1002/ajmg.a.35825. PMID: 23533212

Clinical prediction guides

Jari M, Alesaeidi S
BMC Musculoskelet Disord 2024 May 2;25(1):347. doi: 10.1186/s12891-024-07473-3. PMID: 38693507Free PMC Article
Ritelli M, Chiarelli N, Cinquina V, Vezzoli M, Venturini M, Colombi M
Am J Med Genet A 2024 Feb;194(2):174-194. Epub 2023 Sep 29 doi: 10.1002/ajmg.a.63426. PMID: 37774134
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C
Rheumatol Int 2021 Oct;41(10):1785-1794. Epub 2021 Aug 16 doi: 10.1007/s00296-021-04968-3. PMID: 34398260Free PMC Article
Carbone F, Goelen N, Fikree A, Aziz Q, Tack J
Neurogastroenterol Motil 2021 Jul;33(7):e14086. Epub 2021 Feb 2 doi: 10.1111/nmo.14086. PMID: 33528850
Sinibaldi L, Ursini G, Castori M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):97-106. doi: 10.1002/ajmg.c.31430. PMID: 25821094

Recent systematic reviews

Palmer S, Bailey S, Barker L, Barney L, Elliott A
Physiotherapy 2014 Sep;100(3):220-7. Epub 2013 Oct 5 doi: 10.1016/j.physio.2013.09.002. PMID: 24238699

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