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

Globalcast MD, along with Cincinnati Children's Hospital, sharing knowledge to improve child health around the globe. Hi everyone, I'm M. Gody from Cincinnati Children's Hospital Medical Center. In October 2022, Cincinnati Children's hosted the quad conference, which was a combination of four conferences: the International Organization for Esophageal Atresia, the Aerodigestive Society Conference, the Cincinnati Children's Airway Course, and the Cincinnati Children's Pediatric Dysphagia Series. In this video, we are going to learn about Charge syndrome from Dr. Katherine Hart, an ENT surgeon at Cincinnati Children's. I just wanted to give a little overview for those of you who might be less familiar with what Charge Syndrome is. The acronym stands for coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and or urinary anomalies, and ear malformations. It was first defined back in 1981, and it occurs in anywhere between 1 in 8,500 or 10,000 live births in the United States. A good number of these kids actually do not survive to two years of age. It's caused by a CHD7 mutation on chromosome 8. But there's a good population of these kids who will have a negative test for CHD7 and can still have Charge Syndrome based on clinical criteria. This is typically a Denovo mutation, although we do have a couple of families within our Charge Center where there are multiple children in the family who have Charge Syndrome. One of the key things about it is it's highly variable expression, and there's really a spectrum of involvement across all of the different involved organ systems. And to make the diagnosis, you have to have at least two of what are considered the major criteria: the Cs, coloboma, choanal atresia, or cleft pallet, characteristic ear abnormalities, and cranial nerve abnormalities. If you have that, you have charge syndrome independent of the clinical features. There's a whole list of minor supporting features, and these can contribute to that picture of diagnosis. So you can see here, it really can touch almost all organ systems. To make a definitive clinical diagnosis, you either have three major features and at least one minor feature, or two major features and two minor features, or you can have that CHD7 mutation. The system is involved really perfect for management through an aerodigestive center, so that we can cover all of their comprehensive issues. In conclusion, charge syndrome is a genetic disorder characterized by a wide range of symptoms affecting multiple organ systems, with diagnosis based on a combination of clinical features or a CHD7 mutation. Common complications include airway obstruction, feeding difficulties, and aspiration. Thank you for watching this video. Don't forget to subscribe to the stay current MD YouTube channel. Follow our social media channels and download the stay current MD app for tons of content in pediatric surgery. Globalcast MD, along with Cincinnati Children's Hospital, sharing knowledge to improve child health around the globe.