CHARGE Syndrome

The following information is provided directly from the

CHARGE Syndrome Association of Australasia Inc website.

For further information please visit:  www.chargesyndrome.org.au

CHARGE Syndrome is one of the many different conditions that can be diagnosed in conjunction with Pierre Robin Sequence/Syndrome.   The following is  a brief overview of this complex condition.

Diagnosing CHARGE Syndrome

CHARGE Syndrome (sometimes referred to as CHARGE Assocaition) can only be diagnosed by a qualified Geneticist.

Definition

CHARGE Syndrome, also known as CHARGE Association, is a specific set of birth defects. The major diagnostic criteria were based on the letters in CHARGE. Not all individuals with CHARGE will have all the symptoms, and each of the symptoms can vary in their degree of severity. (Sandra L.H. Davenport, M.D.)

In 1979 Dr Bryan Hall first described the associated features of CHARGE. It became known as CHARGE Association when Dr Roberta Pagon coined the acronym in 1981.

Early Literature Acronym

In the early literature the acronym stood for:

• Coloboma of the eye
• Heart defect
• Atresia of the Choanae
• Retardation of growth and/or development
• Genital hypoplasia
• Ear malformations

The sub group of features included:

• Facial paralysis or palsy
• CHARGE facial features
• Central nervous system disorders
• Swallowing abnormalities
• Cleft lip and/or palate
• Urinary tract malformations
• Tracheo – oesophageal fistula