The cookie is used to store the user consent for the cookies in the category "Performance". This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other. The cookies is used to store the user consent for the cookies in the category "Necessary". The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional". The cookie is used to store the user consent for the cookies in the category "Analytics". These cookies ensure basic functionalities and security features of the website, anonymously. Necessary cookies are absolutely essential for the website to function properly. Please contact the Foundation for more information on this disorder. This overview was written by the CHARGE Syndrome Foundation. Some of the common positive attributes of CHARGE syndrome are determination and strong character. Despite seemingly insurmountable obstacles, individuals with CHARGE syndrome often far surpass medical, physical, educational, and social expectations. There is a wide range of cognitive function, from normal intelligence to significant developmental delays. These deficits lead to delayed motor and speech-language development. Nearly all individuals with CHARGE have multiple sensory deficits: changes in hearing, vision, smell, balance, and pain. Gastrointestenal systems can also be adversely affected. Additional cranial nerve abnormalities are also common, causing facial paralysis, swallowing difficulty, and a diminished sense of smell. The ear malformations are most common and include malformed external ears, middle ear problems, and problems with the inner ear (semicircular canals and cochlea), leading to mixed hearing loss and balance issues. It can be inherited in an autosomal dominant manner.ĬHARGE was originally used as an acronym for the common characteristics of the disorder: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genitourinary abnormalities, and ear malformations. In most cases, the individual with CHARGE is the first person in the family affected. CHARGE syndrome is most often caused by pathogenic variants (mutations) in the CHD7 gene. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. ![]() ![]() CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems.
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