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CHARGE Syndrome
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Synonyms

            • CHARGE association, Hall-Hittner syndrome
          • Definitions

            • CHARGE acronym
              • Coloboma
              • Heart anomaly
              • Atresia choanae
              • Retardation: Mental & somatic development
              • Genital hypoplasia
              • Ear abnormalities

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Image Interpretation Pearls

                                      • Reporting Tips

                                        Selected References

                                        1. Green GE et al: CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol. 35(8):1466-70, 2014
                                        2. Holcomb MA et al: Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope. 123(3):793-6, 2013
                                        3. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                                        4. Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
                                        5. Jongmans MC et al: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 75(1):65-71, 2009
                                        6. Lee YW et al: Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet. 75(3):290-3, 2009
                                        7. Wincent J et al: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 52(4):271-2, 2009
                                        8. Blake KD et al: Cranial nerve manifestations in CHARGE syndrome. Am J Med Genet A. 146A(5):585-92, 2008
                                        9. Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
                                        10. Sanlaville D et al: Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 43(3):211-217, 2006
                                        11. Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006
                                        12. Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 133A(3):306-8, 2005
                                        13. Amiel J et al: Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet. 99(2):124-7, 2001
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                TERMINOLOGY

                                                • Synonyms

                                                  • CHARGE association, Hall-Hittner syndrome
                                                • Definitions

                                                  • CHARGE acronym
                                                    • Coloboma
                                                    • Heart anomaly
                                                    • Atresia choanae
                                                    • Retardation: Mental & somatic development
                                                    • Genital hypoplasia
                                                    • Ear abnormalities

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          • Image Interpretation Pearls

                                                                            • Reporting Tips

                                                                              Selected References

                                                                              1. Green GE et al: CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol. 35(8):1466-70, 2014
                                                                              2. Holcomb MA et al: Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope. 123(3):793-6, 2013
                                                                              3. Legendre M et al: Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 49(11):698-707, 2012
                                                                              4. Fujita K et al: Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol. 30(3):629-34, 2009
                                                                              5. Jongmans MC et al: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 75(1):65-71, 2009
                                                                              6. Lee YW et al: Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet. 75(3):290-3, 2009
                                                                              7. Wincent J et al: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet. 52(4):271-2, 2009
                                                                              8. Blake KD et al: Cranial nerve manifestations in CHARGE syndrome. Am J Med Genet A. 146A(5):585-92, 2008
                                                                              9. Morimoto AK et al: Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 27(8):1663-71, 2006
                                                                              10. Sanlaville D et al: Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 43(3):211-217, 2006
                                                                              11. Tilea B et al: Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases. Pediatr Radiol. 36(2):149-54, 2006
                                                                              12. Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 133A(3):306-8, 2005
                                                                              13. Amiel J et al: Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet. 99(2):124-7, 2001