![]() Your donation will be gratefully accepted and used to subsidise travel costs for speakers and attendees of the conference. The next conference is in Melbourne in May 2018. These are very important to individuals with CHARGE and their families as they are able to connect with each other and hear from a number of international speakers many of whom specialise in CHARGE syndrome. The CHARGE Syndrome Association of Australasia hosts a bi-annual conference for families and professionals. CHARGE syndrome is a rare genetic syndrome with an estimated Australian incidence of 12.8/10 000 births. All are likely to require medical and educational intervention for many years. Most have hearing loss, vision loss, and balance problems which delay their development and communication. In rare instances, an individual with CHD7 disorder inherits a pathogenic variant from a heterozygous parent. Swallowing and breathing problems make life difficult even when they come home. CHD7 disorder is an autosomal dominant disorder typically caused by a de novo pathogenic variant. They spend many months in hospital and undergo many surgeries and other treatments. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child.īabies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. CHARGE Syndrome is a recognisable (genetic) pattern of birth defects which occurs in about one in every 9,000 to 10,000 births worldwide.
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