Abstract
Objective: To discuss the aspects and management of CHARGE Syndrome, a rare genetic condition, caused by a sporadic dominant mutation in the CHD7 gene, based on the outpatient monitoring of a person with the condition. Case Details: BFCSB, female, seven years old, has ophthalmic and auditory dysfunction, optic nerve dysfunction, development and growth delay, cardiovascular malformation, orofacial cleft already submitted to surgery and hearing malformations. In addition, she has difficulty in modulating affection and recurrent suppurative ear infections. She has a negative family history for CHARGE Syndrome. She presents adequate family support and multidisciplinary assistance. In the case of the study patient, the suspicion of CHARGE syndrome was based on major and minor criteria and confirmed through heterozygous mutations in the CHD7 gene. A follow-up by a multidisciplinary team was essential for the patient's development, as well as early treatment of clinical situations encountered. Final Considerations: The patient presents most of the clinical alterations foreseen in the literature for CHARGE Syndrome. Early diagnosis and health care by a multidisciplinary team allowed good results.