Kabuki syndrome


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Inclusion criteria

  • At least 3 of the typical dysmorphic features:
    • Arched eyebrows
    • Sparse lateral one third of the eyebrows
    • Long palpebral fissures
    • Everted lower eyelids
    • Ptosis
    • Blue sclera
    • Strabismus
    • Large dysplastic ears
    • Flat nasal tip
    • Broad nasal root
    • Oligodontia
    • Abnormal dentition
    • Full lower lip
    • Pillowed lower lip
    • Lip nodules
    • Lip pits
    • Micrognathia
  • AND at least 1 of the following:
    • Developmental delay or Intellectual disability
    • Any of the following malformations
      • Cleft palate
      • Congenital Heart Defect
      • Renal malformation
      • Ocular malformation
      • Gastrointestinal malformation
    • Feeding difficulties or Growth retardation
    • Any of the following neurological problems
      • Microcephaly
      • Seizures
    • Any of the following endocrine/metabolic abnormalities
      • Early onset prominent breasts/areola
      • Hypoglycaemia
      • Growth hormone deficiency
      • Diabetes insipidus
      • Unconjugated hyperbillirubinemia
    • Any of the following limb and skeletal anomalies
      • Persistent fetal pads
      • Brachydactyly or clinodactyly
      • Joint dislocation
      • Joint hypermobility
    • Any of the following immunological abnormalities
      • Frequent infections
      • Low Immunoglobulins
      • Autoimmunity

 Exclusion criteria

  • Those with systemic infections (unlike patients with classical hyper IgE 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:

  • KMT2D (MLL2)

 Closing statement

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

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