CHAGE Syndrome: A literature review




CHARGE Syndrome; Hall-Hittner Syndrome; CHARGE Association.


The present study aimed to use literature related to CHARGE syndrome, to create a study with an integrative review character. Where it aims to describe the main characteristics of CS, focusing on its primary and secondary symptoms, forms of diagnosis and difficulty that individuals have to achieve a good quality of life. About the individual, as well as ways of caring and advising on his life. For this purpose, the following databases were used: PUBMED (National Library of Medicine), Springerlink and BVS (Virtual Health Library). The time cut for the search for articles was from 2012 to 2022, until the end of the search, 76 articles were found, making a careful analysis of the findings, 18 bibliographies were used to compose the entire work, with the results emphasizing the importance of explaining the care processes and counseling. Due to this, it is possible to conclude that the person with CHARGE will always have difficulties during his life, but it can be alleviated with the help and support of specialized teams for this support. In addition to the most important thing is the active participation of the family.


Abadie, V., Hamiaux, P., Ragot, S., Legendre, M., Malecot, G., Burtin, A., & Vaivre-Douret, L. (2020). Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet Journal of Rare Diseases, 15(1), 1-14.

Brajadenta, G. S., Bilan, F., Gilbert-Dussardier, B., Kitzis, A., & Thoreau, V. (2019). A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients. European Journal of Human Genetics, 27(11), 1683-1691.

Blake, K. D., & Hudson, A. S. (2017, December). Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 496-506).

Balasubramanian, R., & Crowley Jr, W. F. (2017, December). Reproductive endocrine phenotypes relating to CHD7 mutations in humans. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 507-515).

Cheng, S. S., Luk, H. M., Chan, D. K., & Lo, I. F. (2020). CHARGE syndrome in nine patients from China. American Journal of Medical Genetics Part A, 182(1), 15-19.

Dijk, D. R., Bocca, G., & van Ravenswaaij-Arts, C. M. (2019). Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. Journal of multidisciplinary healthcare, 12, 607.

Dammeyer, J. (2012). Development and characteristics of children with Usher syndrome and CHARGE syndrome. International Journal of Pediatric Otorhinolaryngology, 76(9), 1292-1296.

de Geus, C. M., Free, R. H., Verbist, B. M., Sival, D. A., Blake, K. D., Meiners, L. C., & van Ravenswaaij‐Arts, C. M. (2017, December). Guidelines in CHARGE syndrome and the missing link: cranial imaging. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 450-464).

Donabedian, P. L., Walia, J. Y., & Agarwal-Sinha, S. (2022). Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11. 23 duplication syndrome: case report. BMC ophthalmology, 22(1), 1-7.

Hartshorne, T. S., Hefner, M. A., & Blake, K. D. (Eds.). (2021). CHARGE syndrome. Plural Publishing.

Hefner, M. A., & Fassi, E. (2017, December). Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 407-416.

Hudson, A., & Blake, K. (2016). Newly emerging feeding difficulties in a 33-year-old adult with CHARGE syndrome. Journal of Clinical Medicine Research, 8(1), 56.

Institut du Cerveau, (2016). Stimulate Myelin Generation, A Therapy For Charge Syndrome?

Lobete Prieto, C. J., Llano Rivas, I., Fernández Toral, J., & Madero Barrajón, P. (2010). El síndrome CHARGE. Archivos argentinos de pediatría, 108(1), e9-e12.

Mehr, S., Hsu, P., & Campbell, D. (2017, December). Immunodeficiency in CHARGE syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 516-523).

Moccia, A., Srivastava, A., Skidmore, J. M., Bernat, J. A., Wheeler, M., Chong, J. X., & Bielas, S. L. (2018). Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in medicine, 20(9), 1022-1029.

Slavin, L. J., & Hartshorne, T. S. (2021). The development of an educational checklist for individuals with CHARGE syndrome. International journal of developmental disabilities, 67(4), 256-262.

Sánchez, N., Hernández, M., Cruz, J. P., & Mellado, C. (2019). Phenotypic spectrum of neonatal CHARGE syndrome. Rev. Chil. Pediatr, 90, 533-538.

Trider, C. L., Arra‐Robar, A., van Ravenswaaij‐Arts, C., & Blake, K. (2017). Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173(3), 684-691.

Traisrisilp, K., et al. Prenatal Sonographic Features of CHARGE Syndrome. Diagnostics, 11(3), 415, 2021.

Usman, N., & Sur, M. (2022). CHARGE syndrome. In StatPearls [Internet]. StatPearls Publishing.

Van Ravenswaaij‐Arts, C., & Martin, D. M. (2017, December). New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (175(4), 397-406).

Verloes, A. (2005). Updated diagnostic criteria for CHARGE syndrome: a proposal. American Journal of Medical Genetics Part A, 133(3), 306-308.

Xu, C., Cassatella, D., van der Sloot, A. M., Quinton, R., Hauschild, M., De Geyter, C., & Pitteloud, N. (2018). Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine, 20(8), 872-881.



How to Cite

MENEZES, J. V. L. .; SOUSA, S. L. S. de .; CUSTODIO JUNIOR, G.; BARROS , M. B. L. . CHAGE Syndrome: A literature review. Research, Society and Development, [S. l.], v. 12, n. 2, p. e24412240265, 2023. DOI: 10.33448/rsd-v12i2.40265. Disponível em: Acesso em: 20 may. 2024.



Review Article