CHARGE Syndrome Symptoms, Causes and Treatment Information

What is CHARGE Syndrome? (Definition)

(Symptoms, Causes & Treatment)

According to the U.S. National Library of Medicine, CHARGE syndrome is a disorder or condition which can affect numerous areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among those affected by this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics.

Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person’s vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individuals with CHARGE syndrome frequently have cranial nerve abnormalities. 

People with CHARGE syndrome also typically have middle and inner ear abnormalities and unusually shaped ears.

See below for updated news and information regarding CHARGE Syndrome including new medical research, treatment options and advancements. 

Latest CHARGE Syndrome Research – Treatment News, Discoveries and Findings

No recent news regarding CHARGE Syndrome is available. 

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Clinical Trials – Investigational Therapies

For information on current clinical trials, visit www.clinicaltrials.gov. This is a searchable registry and results database of federally and privately supported clinical trials taking place in the U.S and abroad. ClinicalTrials.gov provides information about a trial’s purpose, who may participate, locations, and phone numbers. This information should be used in conjunction with advice from health care professionals.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll Free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@mail.cc.nih.gov

For information about clinical trials conducted in Europe, visit: https://www.clinicaltrialsregister.eu/ctr-search/search

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