PHACE(S) syndrome

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Inclusion criteria

  • Haemangioma on the scalp or face of >5cm, AND at least 1 major or 2 minor criteria:
  • MAJOR: Anomaly of major cerebral arteries; Posterior fossa anomaly; Aortic arch anomaly; Ocular posterior segment anomaly; sternal defect
  • MINOR: Persistent embryonic artery other than trigeminal artery; Enhancing extra-axial lesion with features consistent with intracranial haemangioma or midline anomaly or neuronal migration defect; Ventricular septal defect or right aortic arch; Ocular anterior segment anomaly; Hypopituitarism/ectopic thyroid

Exclusion criteria

  • Clinical features suggestive of Sturge-Weber syndrome

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

Closing statement

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

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