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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, arthrochalasia type

Ehlers-Danlos syndrome, arthrochalasia type

Synonyms
Arthrochalasis multiplex congenita; EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; EDS7A (formerly); EDS7B (formerly); Ehlers-Danlos syndrome type 7A (formerly); Ehlers-Danlos syndrome type 7B (formerly); Ehlers-Danlos syndrome, arthrochalasia type, 1; Ehlers-Danlos syndrome, arthrochalasis type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

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]

Available tests

70 tests are in the database for this condition.

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Clinical tests (70 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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