Familial non-syndromic cleft lip and or familial cleft palate


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Inclusion Criteria

  • Familial cleft lip with or without cleft palate, or cleft palate alone AND
  • At least 4 affected family members over at least 3 generations, OR
  • At least 3 affected siblings with no additional family history AND
  • At least 3 affected individuals available to participate in the study

Exclusion Criteria

  • Van der Woude syndrome or Stickler syndrome clinically diagnosed
  • Syndromic clefting disorders (see syndromic clefting disorders eligibility criteria)

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
  • IRF6 if lip pits in any member or cleft lip AND palate present in the family

Closing statement  

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

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