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GTR Home > Conditions/Phenotypes > Bone fragility with contractures, arterial rupture, and deafness

Bone fragility with contractures, arterial rupture, and deafness

Synonyms
BCARD SYNDROME; BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS; LH3 DEFICIENCY; LYSYL HYDROXYLASE 3 DEFICIENCY

Summary

BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCARD, LH3, PLOD3
    Summary: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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