CHARGE association

CHARGE Association

CHARGE Association, also known as CHARGE Syndrome, is a complex genetic condition that affects multiple organ systems in the body. The term "CHARGE" is an acronym that stands for Coloboma, Heart defects, Atresia choanae, Growth retardation, Genital abnormalities, and Ear abnormalities. This condition is characterized by a specific pattern of congenital anomalies and is considered a rare disorder.

Clinical Features

Individuals with CHARGE Association typically present with a combination of the following features:

• Coloboma: A defect in the eye that can affect the iris, retina, or optic nerve, leading to vision problems.
• Heart Defects: Congenital heart defects are common and can vary in severity.
• Atresia Choanae: A blockage of the nasal passage, which can cause breathing difficulties.
• Growth Retardation: Delayed growth and development are often observed.
• Genital Abnormalities: These can include underdeveloped genitalia and other reproductive system anomalies.
• Ear Abnormalities: These can include malformed ears and hearing loss.

Genetic Basis

CHARGE Syndrome is most commonly caused by mutations in the CHD7 gene, which plays a crucial role in chromatin remodeling and gene expression during embryonic development. The majority of cases are due to de novo mutations, meaning they occur spontaneously and are not inherited from the parents.

Diagnosis

Diagnosis of CHARGE Association is based on clinical criteria and genetic testing. The presence of multiple characteristic features can lead to a clinical diagnosis, which can be confirmed by identifying a mutation in the CHD7 gene through genetic testing.

Management

Management of CHARGE Syndrome requires a multidisciplinary approach due to the wide range of symptoms and organ systems involved. Treatment is symptomatic and supportive, focusing on addressing each individual's specific needs. This may include surgical interventions for heart defects, vision and hearing support, and therapies to aid in growth and development.

Prognosis

The prognosis for individuals with CHARGE Syndrome varies widely depending on the severity of the symptoms and the presence of life-threatening complications. With appropriate medical care and support, many individuals can lead fulfilling lives.

Epidemiology

CHARGE Syndrome is a rare condition, with an estimated prevalence of 1 in 8,500 to 1 in 10,000 live births. It affects both males and females equally.

Also see

• Congenital Heart Defect
• Coloboma
• Genetic Disorders
• Hearing Loss