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GTR Home > Conditions/Phenotypes > Desbuquois dysplasia 2

Desbuquois dysplasia 2

Synonyms
Baratela-Scott syndrome

Summary

Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450). [from OMIM]

Available tests

31 tests are in the database for this condition.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I, XYLT1
    Summary: xylosyltransferase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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