Kyphoscoliotic Ehlers-Danlos syndrome

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Inclusion Criteria

Presumed Kyphoscoliotic Ehlers Danlos Syndrome with no genetic diagnosis with two or more of the following features:

  • Significant Joint hypermobility and dislocations
  • Skin fragility and hyperextensibility
  • Kyphoscoliosis
  • Increased length at birth with wrist drop
  • Muscular hypotonia
  • Criss-cross lines on palm and soles
  • Hearing impairment
  • Ocular fragility

Exclusion Criteria

  • Known genetic aetiology
  • Kyphoscoliosis as part of an underlying genetic / syndromal diagnosis
  • Symptomatic joint hypermobility without additional confirmed diagnostic features such as kyphoscoliosis

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:

  •  PLOD1
  •  If seen in Specialist EDS Centres (London/ Sheffield): Kyphoscoliotic targeted gene panel

Closing statement

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

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