CHARGE syndrome

CHARGE syndrome describes a pattern of birth defects and is one of the major causes of Deafblindness. It occurs in around one in 10,000 births worldwide and is an extremely complicated condition. CHARGE syndrome involves extensive physical and medical problems which differ from child to child. And in the majority of cases there's no history of the syndrome or other similar conditions in the sufferers family. The term "CHARGE" was used as an acronym for the unusual congenital features which occur in those who have the syndrome;

Coloboma of the eye - A hole in one of the structures in the eye including the lens, retina, eyelid or optic disc.

Heart Defects

Atresia - A condition in which a passage in the body (orifice) is unusually closed or altogether absent. Retardation of growth and/or development - This can be a physical delay caused by health problems such as nutrition or hormone deficiency. It can also be a developmental delay occurring due to problems with hearing and vision.

Genital and urinary abnormalities - Under-developed reproductive organs can occur in both sexes. Kidney or urinary problems can also develop.

Ear abnormalities or deafness - Ear infections can be frequent and many children with CHARGE syndrome suffer from a deformed outer ear.

Although these features aren't currently used to make a diagnosis of the syndrome the name remains. There's also several other difficulties which are associated with CHARGE syndrome including;

  • Weak immune system
  • Facial paralysis
  • Asymmetrical facial features
  • Urinary tract problems including reflux and abnormal kidney shape
  • Seizures
  • Abnormalities of the pituitary gland
  • Microcephaly

Babies born with CHARGE syndrome often have life-threatening birth defects and as such spend many months in hospital to undergo surgery and other treatments. Even when returning home breathing and swallowing can still make like difficult for sufferers. The majority of sufferers also experience vision loss, hearing loss and problems with balance which can affect their development and communication skills. In addition, children suffering from CHARGE syndrome usually require medical and educational help for many years.

What causes CHARGE syndrome?

CHARGE syndrome is a genetic condition. Research indicates that it is caused by a mutation in a single gene, and occurring most frequently the gene CHD7. This is a regulatory gene which has a role in turning other genes off and on. Studies have found that in most cases the mutation in the child was new, meaning that the syndrome is genetic and caused by a new mutation in a dominant gene.