Chondrodysplasia punctata

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Inclusion criteria:

  • CDP reported by skeletal dysplasia expert and/or radiologist
  • Radiological features of a CDP condition, as determined by skeletal dysplasia expert, after stippling would be expected to have resolved (after 2nd birthday usually), e.g. rhizomelia, remnants of vertebral body clefting, short tibiae and metacarpals
  • Biochemical evidence of abnormal metabolism, i.e. VLCFA profile, abnormal cholesterol biosynthesis, abnormal arylsulphatase E

Exclusion criteria:

  • Maternal factors excluded (i.e. Mixed connective tissue disease, Hyperemesis gravidarum, fetal exposure to warfarin)
  • Radiology not consistent
  • Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray) demonstrating an imbalance that explains the condition

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:

  • Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)

Closing statement

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

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