U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Bruck syndrome 1

Bruck syndrome 1

Synonyms
Arthrogryposis-like disorder; Kuskokwim disease

Summary

Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome. [from OMIM]

Available tests

35 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRKS, BRKS1, FKBP65, OI11, OI6, PPIASE, TLH1, hFKBP65, FKBP10
    Summary: FKBP prolyl isomerase 10

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.