Specialist Web Sites

 CHARGE info at Sense

A collection of factsheets and other information about CHARGE from the UK charity Sense.
 Charge Syndrome Foundation

A US Charity providing support and information to families and individuals effected by CHARGE.
 NICE Evidence Search

Research and guidance review from NICE
 The CHARGE Family Support Group

A UK CHARGE support group for parents, carers and professionals

CHARGE

Wikipedia Extract : View Full Article

CHARGE syndrome (formerly known as CHARGE association), is a rare syndrome caused by a genetic disorder.

First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1-1.2 per 10,000 live births; as of 2009 it was the leading cause of congenital deafblindness in the US.

CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with CHARGE will have 100% of its known features.