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Ehlers-danlos syndrome, arthrochalasia type, 2

MedGen UID:
977637
•Concept ID:
CN293783
•
Disease or Syndrome
Synonym: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
 
Gene (location): COL1A2 (7q21.3)
 
Monarch Initiative: MONDO:0040501
OMIM®: 617821

Definition

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. [from OMIM]

Professional guidelines

PubMed

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS
Am J Med Genet A 2020 May;182(5):994-1007. Epub 2020 Feb 24 doi: 10.1002/ajmg.a.61523. PMID: 32091183

Recent clinical studies

Etiology

Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.
Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C
Child Abuse Negl 2019 May;91:95-101. Epub 2019 Mar 8 doi: 10.1016/j.chiabu.2019.03.008. PMID: 30856599Free PMC Article
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT
Clin Genet 2012 Aug;82(2):121-30. Epub 2011 Aug 24 doi: 10.1111/j.1399-0004.2011.01758.x. PMID: 21801164Free PMC Article

Diagnosis

Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.
Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C
Child Abuse Negl 2019 May;91:95-101. Epub 2019 Mar 8 doi: 10.1016/j.chiabu.2019.03.008. PMID: 30856599Free PMC Article
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT
Clin Genet 2012 Aug;82(2):121-30. Epub 2011 Aug 24 doi: 10.1111/j.1399-0004.2011.01758.x. PMID: 21801164Free PMC Article

Prognosis

Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.
Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C
Child Abuse Negl 2019 May;91:95-101. Epub 2019 Mar 8 doi: 10.1016/j.chiabu.2019.03.008. PMID: 30856599Free PMC Article

Clinical prediction guides

Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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