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

<p>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.</p>

<p><strong>Key Highlights:</strong></p>

<ul>
	<li><strong>What is CHARGE Syndrome?</strong> The acronym stands for coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital/urinary anomalies, and ear malformations.</li>
	<li><strong>Causes and Diagnosis:</strong> CHARGE is typically caused by a CHD7 mutation on chromosome 8 but can also be diagnosed clinically with specific major and minor criteria.</li>
	<li><strong>Multisystem Impact:</strong> The syndrome’s highly variable expression means it can affect almost every organ system, requiring coordinated care.</li>
	<li><strong>Care through an Aerodigestive Center:</strong> The Aerodigestive Center at Cincinnati Children’s ensures comprehensive management of airway, feeding, and developmental challenges.</li>
</ul>

<p>Learn how Cincinnati Children’s provides expert care for patients with CHARGE syndrome, helping them overcome complex challenges and improve quality of life. Don’t forget to like, comment, and subscribe for more pediatric insights!</p>


Type: video · 0 min · posted 2024-11-26
Canonical: https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458

## Chapters
- [0:00](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=0) CHARGE Syndrome Definition and Diagnostic Criteria

## Statements
- "CHARGE acronym stands for coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and/or urinary anomalies, and ear malformations" (clinical) [0:00](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=0)
- "CHARGE syndrome is caused by a CHD7 mutation on chromosome 8" — Catherine Hart (clinical) [0:11](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=11)
- "A population of children with CHARGE syndrome will have a negative test for CHD7" — Catherine Hart (clinical) [0:11](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=11)
- "CHARGE syndrome can be diagnosed based on clinical criteria even without CHD7 mutation" — Catherine Hart (clinical) [0:20](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=20)
- "Diagnosis requires at least two major criteria" (guideline) [0:24](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=24)
- "Major criteria are coloboma, choanal atresia or cleft palate, characteristic ear abnormalities, and cranial nerve abnormalities" (guideline) [0:28](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=28)
- "Definitive clinical diagnosis requires either 3 major features and at least 1 minor feature, or 2 major features and 2 minor features, or CHD7 mutation" — Catherine Hart (guideline) [0:41](https://library.globalcastmd.com/watch/quad-22-what-is-charge-syndrome-with-dr-catherine-hart-9458?t=41)

## Transcript
The acronym stands for coloboma, heart defects, atresia of the coina, retardation of growth and development, genital and or urinary anomalies, and ear malformations. 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 CHARTE syndrome based on clinical criteria. And to make the diagnosis, you have to have at least two of what are considered the major criteria. It's the C's coloboma, quanal atresia, or cleft palate, characteristic ear abnormalities, and cranial nerve abnormalities. If you have that, you have CHARGE syndrome independent of the clinical features. To make a definitive clinical diagnosis, you either have 3 major features and at least 1 minor feature. Or 2 major features and 2 minor features, or you can have that CHD7 mutation. Download the Stay Current pediatric surgery app to hear the entire episode.

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Not medical advice · citation policy: https://library.globalcastmd.com/ai