RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Updates are delayed or unverified. Check original sources for the latest information.
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CHARGE Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Choroidal Cavitations within Optic Nerve Colobomas in CHARGE Syndrome.
Quarta Alberto et al., Ophthalmology. Retina (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/41677486/
- 2.
Cochlear Implantation and Hearing Rehabilitation in CHARGE Syndrome: Expanding Clinical Knowledge and Outcomes.
Abdul-Hadi Soraya et al., Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42312869/
- 3.
Myxomatous Mitral Valve Disease and CHARGE Syndrome: An Uncommon Association.
Mukati Ravina et al., Annals of cardiac anaesthesia (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42862699/
- 4.
Endoscopic recannulation with temporary steroid-eluting biodegradable stenting as a bridge strategy for complete subglottic stenosis in a child with CHARGE syndrome.
Schrepfer Thomas et al., BMJ case reports (17 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42754356/
- 5.
Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.
Okuno Takashi et al., American journal of medical genetics. Part A (13 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42733123/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
CHARGE Syndrome
CHARGE syndrome is caused by mutations in the CHD7 gene and affects multiple organ systems including the eyes (coloboma), heart, choanae, growth, genitalia, and ears. It occurs in approximately 1 in 10,000 births. The name is an acronym for its key features. Early intervention and specialist care are essential.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is CHARGE Syndrome?
CHARGE syndrome is caused by mutations in the CHD7 gene and affects multiple organ systems including the eyes (coloboma), heart, choanae, growth, genitalia, and ears. It occurs in approximately 1 in 10,000 births. The name is an acronym for its key features. Early intervention and specialist care are essential.
How many clinical trials are available for CHARGE Syndrome?
RareWays currently indexes 1 clinical trial for CHARGE Syndrome. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for CHARGE Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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