- Cleft palate and/or cleft lip palate AND
- At least one additional structural malformation, OR
- Height/length or head circumference >3SDs from the mean, OR
- Dysmorphism, OR
- Intellectual disability – moderate or more severe, OR
- Autism spectrum disorder
- Known teratogenic or genetic 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
- IRF6 if suspected Van der Woude syndrome; COL2A1, COL11A1 and COL11A2 in suspected Stickler syndrome (as guided by ocular phenotype)
These requirements will be kept under continual review during the main programme and may be subject to change« Back to Disease List