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GTR Home > Conditions/Phenotypes > Pili torti-deafness syndrome

Pili torti-deafness syndrome

Synonyms
Bjornstad syndrome; Deafness and pili torti, Bjornstad type; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000). [from OMIM]

Available tests

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1, BCS1L
    Summary: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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