Stay Current In Pediatric Surgery

QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart

Informações:

Sinopsis

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 every organ system, requiring coordinated care.Care through an Aerodigestive Center: The Aerodigestive Center at Cincinnati Children’s ensures comprehensive management of airway, feeding, and developmental challenges.Learn how Cincinnati Children’s provides expert care for