Episode notes
In this educational video, Dr. Catherine Hart, ENT surgeon at Cincinnati Children’s, provides an overview of CHARGE syndrome, a rare genetic disorder that affects multiple organ systems. Learn about its diagnosis, clinical features, and the comprehensive care required for patients with this condition.
Key Highlights:
- What is CHARGE Syndrome? The acronym stands for coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital/urinary anomalies, and ear malformations.
- Causes and Diagnosis: CHARGE is typically caused by a CHD7 mutation on chromosome 8 but can also be diagnosed clinically with specific major and minor criteria.
- Multisystem Impact: The syndrome’s highly variable expression means it can affect almost ev ...
Keywords
pediatric surgerysome4pedsurgquadaerodigestiveentCHARGEcolombasyndromeheart defectsatresia of the choanaeretardation of growth and developmentgenital anomaliesurinary anomaliesear malformationsrare genetic disorderCHD7 mutationchromosome 8airway feedingdevelopmental challenges