Stickler syndrome


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Inclusion criteria

  • 3 or more of:
  • Cleft palate
  • Characteristic retinal or vitreous changes
  • High frequency sensorineural hearing loss
  • Characteristic facial features (malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia)
  • Musculoskeletal features: femoral head failure (slipped epiphysis or Legg-Perthes-like disease), radiographically demonstrated osteoarthritis before age 40, scoliosis, spondylolisthesis, Scheuermann-like kyphotic deformity or joint hypermobility

 Exclusion 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:

  •  COL2A1, COL11A1

Closing statement 

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

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