GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, procollagen proteinase deficient

Summary

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). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

  • Also known as: EDSARTH2, EDSCV, OI4, COL1A2
    Summary: collagen type I alpha 2 chain

Clinical features

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