CHARGE Syndrome Differential Diagnoses

Updated: Apr 05, 2016
  • Author: David H Tegay, DO, FACMG; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

These include the following:

  • 22q11.2 deletion syndrome
  • Cat-eye syndrome
  • Holoprosencephaly spectrum disorders
  • Isolated coloboma
  • Isolated choanal atresia
  • Isolated congenital heart defects
  • Joubert spectrum
  • Kabuki syndrome
  • Renal coloboma syndrome
  • VATER/VACTERL association

Differential Diagnoses