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Nov 17, 2023 · CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems.
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality.
CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in each 150,000 births worldwide. CS is a very complex syndrome which often involves: Colobomas (a hole in the structures of the eye) Heart defects
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma , heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
CHARGE syndrome refers to a specific set of birth defects, medical problems, and developmental issues. The most distinctive birth defects are coloboma, choanal atresia and characteristic ears (external ears and small/absent semicircular canals). Diagnosis should be made by a medical geneticist.
May 13, 2024 · CHARGE syndrome is a rare genetic disorder that is characterized by a set of birth defects, health problems, and developmental challenges. CHARGE is an acronym that stands for the most common CHARGE symptoms: coloboma, heart defects, atresia, retardation, genital abnormalities, and ear abnormalities.
The mission of the CHARGE Syndrome Foundation is to provide support to individuals with CHARGE and their families; to gather, develop, maintain and distribute information about CHARGE syndrome; and to promote awareness and research regarding its cause and management.
