The diseases mainly treated by the Division of Pediatric Genetics are in the following 4 categories: chromosomal abnormalities, inherited metabolic diseases (including abnormalities in newborn metabolic screening tests), multiple malformation syndrome, and rare genetic diseases. We provide genetic counseling, including screening for high-risk families, as well as diagnosis and treatment for each category.
In particular, by appropriately using state-of-art genetic testing methods under rapid development, we present guidelines for diagnosis, management, and treatment of causative diseases and conduct genetic counseling for families. In addition, we are establishing various cooperative systems with the Department of Pediatric Plastic Surgery, Pediatric Orthopedics, Pediatric Otorhinolaryngology, Pediatric Rehabilitation Medicine, Pediatric Ophthalmology, Pediatric Dermatology, Obstetrics and Gynecology (related to prenatal diagnosis), along with other Divisions of the Pediatric Department, and ¬are also available for appropriate management of various rare and genetic diseases.