CHARGE Syndrome Differential Diagnoses

Updated: Jun 12, 2019
  • Author: Megan Ehlinger Boothe, MD; 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