Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation

Abstract

CHARGE syndrome with chromodomain-helicase-DNA-binding protein 7 (CDH7) gene mutation is a genetic disease with an autosomal dominant gene. This syndrome involves a combination of six congenital anomalies (heart anomalies, coloboma of the eye, retardation of the growth or development, atresia of the choana, ear anomalies, and genital anomalies). Here, we present a case of a 15-month-old male child who was born to a 23-year-old healthy mother with no history of any exposure to teratogenic materials or drugs. The patient was delivered by cesarean section because of the failure of progression at 39 weeks of pregnancy with several health problems that started with the respiratory system right after birth. On examination, he was found to be suffering from several congenital anomalies, including heart, face, eyes, ears, and genitalia. A genetic analysis was performed for the patient, and a mutation in the CDH7 gene was found. The patient was diagnosed as a sporadic case of CHARGE syndrome. The patient's treatment plan is a multidisciplinary team effort to alleviate his quality of life and further increase life expectancy.