Unexplained skeletal dysplasia


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Inclusion Criteria

Unexplained skeletal dysplasia as determined by one of the following:

  • Unknown/undefined skeletal dysplasia detected on skeletal survey by a radiologist with expertise in skeletal dysplasias [expertise is available via DREAMS (http://d-reams.org by contacting: DREAMS@sheffield.ac.uk] OR
  • Skeletal phenotype on skeletal survey consistent with a known disorder for which the common gene mutations for that disorder have been excluded

Exclusion Criteria

  • Known aetiology
  • Disproportionate short stature with non-skeletal aetiology
  • Short stature (<0.4th centile) for other non-skeletal reason (e.g. growth hormone deficiency)
  • Skeletal dysplasia within remit of other 100,000 Genomes Project disorder

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

  • No genes listed

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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