To make known the CHARGE syndrome and description of the radiological findings in this pathology.

The CHARGE syndrome is a congenital disease of unknown cause, most cases associated with a genetic defect in CHD7 located on chromosome 8. Occur in approximately 1 in 8,500 to 10,000 newborns. Mutations in the CHD7gene cause most cases of CHARGE syndrome although a small percentage of individuals with CHARGE syndrome do not have an identified this mutation. Some of them may have a genetic change affecting the CHD7 gene that has not been found, and others may have a change in a different gene....

CHARGE is a mnemonic for Coloboma (Fig. 1 Fig. 2 Fig. 3), Heart defects, choanal Atresia, Retarded growth and development (Fig. 7), Genital abnormalities and Ear anomalies (Fig. 4, Fig. 5, Fig. 6). Diagnostic criteria for CHARGE syndrome, a multiple malformation syndrome, are based on a combination of major and minor diagnostic characteristics. As described by Blake et al (1998), and modified by Amiel et al (2001) and Verloes (2005). Definite CHARGE syndrome. Individuals with all four major characteristics or three major and three minor...

The current radiologist has a fundamental role in the rare diseases. CHARGE is a rare syndrome with multiple clinical manifestations of which some of them will only be diagnosed through radiological techniques. So it's sometimes necessary that these pathologies are explained from a radiological approach without having to perform an extensive literature search.

Lalani SR, Hefner MA, Belmont JW, et al. CHARGE Syndrome. 2006 Oct 2 [Updated 2012 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1117/ Hoch MJ, Patel SH, Jethanamest D, Win W, Fatterpekar GM, Roland JT, et al. Head and Neck MRI Findings in CHARGE Syndrome. American Journal of Neuroradiology. 2017, 38 (12): 2357-2363. Morimoto AK, Wiggins RH, Hudgins PA, et al. Absent semicircular canals in-CHARGE syndrome: radiologic spectrum of findings....