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Hereditary disorder of connective tissue

MedGen UID:
473110
•Concept ID:
C0410787
•
Disease or Syndrome
Synonym: Hereditary connective tissue disorder
SNOMED CT: Inherited disorder of connective tissue (363045008); Connective tissue hereditary disorder (363045008)
 
Monarch Initiative: MONDO:0023603

Definition

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary disorder of connective tissue

Professional guidelines

PubMed

Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group
Lancet Neurol 2018 Apr;17(4):347-361. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30025-5. PMID: 29395990Free PMC Article

Recent clinical studies

Etiology

The spectrum of gastrointestinal functional bowel disorders in joint hypermobility syndrome and in an academic referral center.
Loganathan P, Herlihy D, Gajendran M, Gonzalez Z, Chavez LO, Espino K, McCallum RW
J Investig Med 2024 Jan;72(1):162-168. Epub 2023 Nov 18 doi: 10.1177/10815589231210486. PMID: 37858959
Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR-pQCT.
Folkestad L, Groth KA, Shanbhogue V, Hove H, Kyhl K, Østergaard JR, Jørgensen NR, Andersen NH, Gravholt CH
J Bone Miner Res 2020 Dec;35(12):2335-2344. Epub 2020 Sep 22 doi: 10.1002/jbmr.4138. PMID: 32706399
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA
Genet Test 2004 Fall;8(3):292-300. doi: 10.1089/gte.2004.8.292. PMID: 15727254
A clinical and echocardiographic study of patients with the hypermobility syndrome.
Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W
Ann Rheum Dis 1981 Dec;40(6):541-6. doi: 10.1136/ard.40.6.541. PMID: 7332373Free PMC Article

Diagnosis

The spectrum of gastrointestinal functional bowel disorders in joint hypermobility syndrome and in an academic referral center.
Loganathan P, Herlihy D, Gajendran M, Gonzalez Z, Chavez LO, Espino K, McCallum RW
J Investig Med 2024 Jan;72(1):162-168. Epub 2023 Nov 18 doi: 10.1177/10815589231210486. PMID: 37858959
Masterclass: Hypermobility and hypermobility related disorders.
Simmonds JV
Musculoskelet Sci Pract 2022 Feb;57:102465. Epub 2021 Oct 13 doi: 10.1016/j.msksp.2021.102465. PMID: 34808594
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):48-69. Epub 2017 Feb 1 doi: 10.1002/ajmg.c.31538. PMID: 28145611
The multifaceted and complex hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome Hypermobility Type): evaluation and management through a rehabilitative approach.
Celletti C, Camerota F
Clin Ter 2013;164(4):e325-35. doi: 10.7417/CT.2013.1597. PMID: 24045532

Therapy

Pain Management through Neurocognitive Therapeutic Exercises in Hypermobile Ehlers-Danlos Syndrome Patients with Chronic Low Back Pain.
Celletti C, Paolucci T, Maggi L, Volpi G, Billi M, Mollica R, Camerota F
Biomed Res Int 2021;2021:6664864. Epub 2021 Jun 1 doi: 10.1155/2021/6664864. PMID: 34124258Free PMC Article

Prognosis

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.
Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN
J Mol Cell Cardiol 2006 Feb;40(2):234-46. doi: 10.1016/j.yjmcc.2005.11.009. PMID: 16442122
Pregnancy with aortic dissection in Ehler-Danlos syndrome. Staged replacement of the total aorta (10-year follow-up).
Babatasi G, Massetti M, Bhoyroo S, Khayat A
Eur J Cardiothorac Surg 1997 Oct;12(4):671-4. doi: 10.1016/s1010-7940(97)00211-x. PMID: 9370418

Clinical prediction guides

The spectrum of gastrointestinal functional bowel disorders in joint hypermobility syndrome and in an academic referral center.
Loganathan P, Herlihy D, Gajendran M, Gonzalez Z, Chavez LO, Espino K, McCallum RW
J Investig Med 2024 Jan;72(1):162-168. Epub 2023 Nov 18 doi: 10.1177/10815589231210486. PMID: 37858959
Pain Management through Neurocognitive Therapeutic Exercises in Hypermobile Ehlers-Danlos Syndrome Patients with Chronic Low Back Pain.
Celletti C, Paolucci T, Maggi L, Volpi G, Billi M, Mollica R, Camerota F
Biomed Res Int 2021;2021:6664864. Epub 2021 Jun 1 doi: 10.1155/2021/6664864. PMID: 34124258Free PMC Article
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Regulation of fibrillin-1 gene expression by Sp1.
Guo G, Rödelsperger C, Digweed M, Robinson PN
Gene 2013 Sep 25;527(2):448-55. Epub 2013 Jul 13 doi: 10.1016/j.gene.2013.07.006. PMID: 23860323
A clinical and echocardiographic study of patients with the hypermobility syndrome.
Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W
Ann Rheum Dis 1981 Dec;40(6):541-6. doi: 10.1136/ard.40.6.541. PMID: 7332373Free PMC Article

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