Arthrochalasia Ehlers-Danlos syndrome

MedGen UID:: 78662
•Concept ID:: C0268345
•: Disease or Syndrome

Synonyms:	Arthrochalasia multiplex congenita; Arthrochalasis multiplex congenita; Ehlers-Danlos syndrome type 7; Ehlers-Danlos syndrome, procollagen proteinase deficient; Ehlers-Danlos Syndrome, Type VII; Procollagen aminoprotease deficiency; Procollagen peptidase deficiency; Procollagen protease deficiency
SNOMED CT:	Arthrochalasia multiplex congenita (55711009); Ehlers-Danlos syndrome type 7 (55711009); Arthrochalasia Ehlers-Danlos syndrome (55711009); Ehlers-Danlos syndrome, procollagen proteinase deficient (55711009); Procollagen peptidase deficiency (55711009); Procollagen protease deficiency (55711009); Arthrochalasis multiplex congenita (55711009); Procollagen aminoprotease deficiency (55711009)

Definition

Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVArthrochalasia Ehlers-Danlos syndrome

Disorder by Site
- Connective and Soft Tissue Disorder
  - Connective tissue disorder
    - Hereditary disorder of connective tissue
      - COL1A1 Associated Connective Tissue Disorder
        Ehlers-Danlos syndrome
        Arthrochalasia Ehlers-Danlos syndrome

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

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Recent clinical studies

Etiology

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T
Am J Med Genet A 2022 Sep;188(9):2560-2575. Epub 2022 Jul 13 doi: 10.1002/ajmg.a.62887. PMID: 35822426 Free PMC Article

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: 30856599 Free PMC Article

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

D'hondt S, Van Damme T, Malfait F
Genet Med 2018 Jun;20(6):562-573. Epub 2017 Oct 5 doi: 10.1038/gim.2017.138. PMID: 28981071 Free 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: 21801164 Free PMC Article

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Diagnosis

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.

Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892 Free PMC Article

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: 30856599 Free PMC Article

The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.

Hatamochi A, Hamada T, Yoshino M, Hashimoto T
Gene 2014 Mar 15;538(1):199-203. Epub 2014 Jan 17 doi: 10.1016/j.gene.2014.01.033. PMID: 24440294

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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: 30856599 Free PMC Article

See all (1)