Radial dysplasia


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Inclusion criteria

  • Bilateral radial dysplasia, OR
  • Unilateral radial dysplasia with positive family history, parental consanguinity or additional syndromic features (such as at least one additional structural malformation, height/length or head circumference >3SDs from the mean, dysmorphism, moderate or worse intellectual disability or autism spectrum disorder)

Exclusion criteria

  • Known genetic cause
  • Known teratogenic cause

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

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • aCGH or equivalent
  • Fanconi breakage testing (if features suggestive of Fanconi anaemia)
  • TBX5 (if phenotype suggestive of Holt-Oram syndrome)
  • RBM8A (if aCGH or clinical features suggestive of TAR syndrome)

Closing statement

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

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