Primary Microcephaly – Microcephalic Dwarfism Spectrum

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 Inclusion Criteria:

  • Occipitofrontal circumference (OFC) >2 standard deviations (SD) below mean at birth AND progressive microcephaly to >4SD, OR
  • OFC >4SD below mean at birth, OR
  • OFC >3SD below mean at birth AND length >3SD below mean at birth

Exclusion Criteria:

  • A known genetic cause.
  • Dysmorphic physical features or MRI brain indicative of an alternative diagnosis
  • Evidence of an environmental 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 as below is strongly recommended PRIOR TO RECRUITMENT as diagnosis of these disorders carries important management implications:

  • Array or equivalent genome-wide copy number analysis.
  • ASPM and other genes dictated by the phenotype

Closing statement

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

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