CHARGE Syndrome

CHARGE Syndrome is a specific set of birth defects commonly found together.

The word CHARGE is an acronym for each of the defects that may be found in people diagnosed with CHARGE.

Coloboma - cleft or failure to close the eye

• Loss of vision sensitivity to light

Heart defects

• Most CHARGE Syndrome children have some form of heart defect.

Atresia - blockage of the back of the nasal passage

• blockages cause inability to breathe through the nose

Retardation - Phisical developmental

• May become physically delayed due to health problems

Genital and urinary difficulties

• Both males and females may have underdeveloped reproductive organs and may have kidney and urinary problems.

Ear abnormalities and hearing loss

• Many children have deformed outer ear

Other possible health problems associated with CHARGE Syndrome

• Cleft lip or palate
• Weak immune system
• Facial paralysis
• Seizures
• Difficulties swallowing
• Abnormalities of the pituitary gland

Children may be in and out of hospitals constantly for the first few years of life. Often children with CHARGE Syndrome may go undiagnosed due to lack of knowledge about the disease. To be diagnosed with CHARGE Syndrome the child must display at least four of the six major characteristics associated with CHARGE Syndrome. Once CHARGE Syndrome is suspected it is crucial to have the child assessed by a team of professionals to check and make sure that any other problems associated with CHARGE Syndrome are discovered and addressed (audiological and opthamological examination, physical exam – check heart, kidneys, reproductive organs).