Ehlers-danlos syndrome, arthrochalasia type, 2

Synonyms: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT

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). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

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

Reviews

Clinical resources

Molecular resources

Consumer resources

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