CHARGE Syndrome

Disability/Illness Description:

CHARGE syndrome (or CHARGE Association) is a very rare disorder that includes people who share a specific set of challenges present at birth. The word “CHARGE” comes from the first letters of some of the most common features seen in these individuals. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness.

This disorder was first identified in 1981. It is believed that CHARGE is greatly under-diagnosed and that, when awareness is increased, it will be recognized as one of the leading causes of deaf-blindness.

Associations/Groups:

The CHARGE Syndrome Foundation was formed in 1993.

CHARGE Syndrome Foundation
318 Half Day Rd #305
Buffalo Grove, IL 60089
Phone: 516-684-4720
Toll Free: 800-442-7604 Fax: 888-317-4735
Sheri Stanger, Director of Outreach email:  sheri@chargesyndrome.org
Email:  info@chargesyndrome.org

Other Information:

CHARGE Syndrome – US National Library of Medicine

Charge Syndrome Foundation has New Parent Information Packet available to callers. Call Charge Syndrome Foundation to locate other parents in your area. 800-442-7604

Similar conditions: Other conditions that have overlapping features include VATER/VACTERL association, velocardiofacial (VCF) syndrome, and prenatal retinoic acid (Accutane) exposure.

 

Fact Sheet last updated on: 12/14/2016