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Ehlers-Danlos/osteogenesis imperfecta syndrome

MedGen UID:
1386497
•Concept ID:
C4518787
•
Disease or Syndrome
Synonyms: EDS/OI syndrome; Ehlers-Danlos and osteogenesis imperfecta syndrome
SNOMED CT: Ehlers-Danlos and osteogenesis imperfecta syndrome (733457006)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016470
OMIM® Phenotypic series: PS619115
Orphanet: ORPHA230857

Definition

An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEhlers-Danlos/osteogenesis imperfecta syndrome

Professional guidelines

PubMed

Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.
Charoenngam N, Cevik MB, Holick MF
Curr Opin Pediatr 2020 Aug;32(4):560-573. doi: 10.1097/MOP.0000000000000914. PMID: 32692054

Recent clinical studies

Etiology

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.
Šinská Alexandra, Hostinská Eliška, Pilka Radovan
Ceska Gynekol 2022;87(6):396-400. doi: 10.48095/cccg2022396. PMID: 36543586
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
Tucker-Bartley A, Lemme J, Gomez-Morad A, Shah N, Veliu M, Birklein F, Storz C, Rutkove S, Kronn D, Boyce AM, Kraft E, Upadhyay J
Neurosci Biobehav Rev 2021 May;124:267-290. Epub 2021 Feb 10 doi: 10.1016/j.neubiorev.2021.02.009. PMID: 33581222Free PMC Article
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.
Baban A, Castori M
Expert Rev Clin Pharmacol 2018 Jul;11(7):689-703. Epub 2018 Jul 19 doi: 10.1080/17512433.2018.1497973. PMID: 29979900
Genetic disorders of collagen.
Tsipouras P, Ramirez F
J Med Genet 1987 Jan;24(1):2-8. doi: 10.1136/jmg.24.1.2. PMID: 3543367Free PMC Article

Diagnosis

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.
Šinská Alexandra, Hostinská Eliška, Pilka Radovan
Ceska Gynekol 2022;87(6):396-400. doi: 10.48095/cccg2022396. PMID: 36543586
Genetic and Metabolic Conditions.
Stankovits LM, Lopyan AH
Pediatr Clin North Am 2020 Feb;67(1):23-43. doi: 10.1016/j.pcl.2019.09.005. PMID: 31779835
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
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
Joint hypermobility.
Bird HA
Musculoskeletal Care 2007 Mar;5(1):4-19. doi: 10.1002/msc.91. PMID: 17152113

Therapy

Unknown: Papules on the knees. Elastosis perforans serpiginosa (EPS).
Boccaletti VP, Ricci R, De Panfilis G
Dermatol Online J 2011 May 15;17(5):12. PMID: 21635834
Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders.
Kobayasi T
Eur J Dermatol 2004 Jul-Aug;14(4):221-9. PMID: 15319154
Anaemia, osteogenesis imperfecta and valve diseases. The preoperative treatment with epoetin-alpha to increase haematocrit and haemoglobin levels in patients with high risk of perioperative bleeding.
Podestà A, Crivellari R, Dottori V, Parodi E, Passerone G
Minerva Cardioangiol 2000 Oct;48(10):323-7. PMID: 11195863
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
Raghunath M, Steinmann B, Delozier-Blanchet C, Extermann P, Superti-Furga A
Pediatr Res 1994 Oct;36(4):441-8. doi: 10.1203/00006450-199410000-00005. PMID: 7816518
Disorders of transepidermal elimination. Part 1.
Woo TY, Rasmussen JE
Int J Dermatol 1985 Jun;24(5):267-79. doi: 10.1111/j.1365-4362.1985.tb05781.x. PMID: 3160676

Prognosis

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB
J Biol Chem 2022 Dec;298(12):102713. Epub 2022 Nov 17 doi: 10.1016/j.jbc.2022.102713. PMID: 36403858Free PMC Article
Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.
Morningstar JE, Nieman A, Wang C, Beck T, Harvey A, Norris RA
J Am Heart Assoc 2021 Jul 6;10(13):e020919. Epub 2021 Jun 22 doi: 10.1161/JAHA.121.020919. PMID: 34155898Free PMC Article
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Review of computer-aided models for predicting collagen stability.
Concu R, Podda G, Gonzalez-Diaz H, Shen B
Curr Comput Aided Drug Des 2011 Dec;7(4):287-303. doi: 10.2174/157340911798260269. PMID: 22050685
Heritable disorders of connective tissue.
Grahame R
Baillieres Best Pract Res Clin Rheumatol 2000 Jun;14(2):345-61. doi: 10.1053/berh.1999.0069. PMID: 10925749

Clinical prediction guides

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M
Clin Genet 2020 Mar;97(3):396-406. Epub 2019 Dec 12 doi: 10.1111/cge.13683. PMID: 31794058
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320

Recent systematic reviews

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article

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