Familial hemifacial microsomia


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Inclusion Criteria

  • Proband with either HFM, Goldenhar or Oculoauriculovertebral spectrum, AND
  • At least two other relatives with features of first and second branchial arch anomalies especially macrostomia, epibulbar dermoid, asymmetric mandiular hypoplasia or microtia/ significant external ear anomaly (but not isolated preauricular pits or minor ear anomalies).

Exclusion Criteria

  • Known 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
  • Preauricular pits: EYA1, SIX1
  • SALL1 (if abnormal thumbs or anal anomaly)
  • SALL4, EFTUD2 and SF3B4 (if abnormal thumbs)
  • TCOF1 (if bilateral microtia)

Closing statement

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

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