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Bruck syndrome 2

Synonyms
OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES

Summary

Bruck syndrome-2 (BRKS2) is an autosomal recessive disorder characterized by osteoporosis, joint contractures at birth, fragile bones, and short stature (Van der Slot et al., 2003). For a discussion of genetic heterogeneity of Bruck syndrome, see Bruck syndrome-1 (BRKS1; 259450). [from OMIM]

Available tests

48 tests are in the database for this condition.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRKS2, LH2, TLH, PLOD2
    Summary: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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