A rare autosomal dominant, multi-faceted genetic syndrome attributed to mutations in CHD7 protein. Key features of CHARGE syndrome are represented by its pneumonic name and include: Coloboma, Heart anomalies, choanal Atresia, Retardation of growth and development, and Genital and Ear anomalies. CHARGE syndrome in newborns may be life-threatening, as it presents with feeding difficulties, heart defects, and airway obstruction. Other common signs and symptoms include sensory loss, cleft palate, and other facial and limb anomalies, and in males, hypogonadotropic hypogonadism.
ICD10CM: Q89.8 – Other specified congenital malformations
SNOMEDCT: 47535005 – Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association