Charge syndrome

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Charge syndrome

Charge syndrome (pronounced /ʃɑːrʒ/), also known as Hall-Hittner syndrome, is a rare genetic disorder characterized by a specific pattern of birth defects. The name "CHARGE" is an acronym for the set of unusual congenital features seen in this condition: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital abnormalities, and Ear abnormalities.

Etymology

The term "CHARGE" was coined in 1981 by Dr. Bille Hittner and Dr. H. Robert Hall, who first identified the syndrome. The name is an acronym for the main features of the disorder: Coloboma, Heart defects, Atresia choanae, Retardation of growth and/or development, Genital abnormalities, and Ear abnormalities.

Symptoms

The symptoms of CHARGE syndrome vary widely from person to person, but they often include:

  • Coloboma: A gap in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
  • Heart defects: These can range from minor to severe and may include atrial septal defect, ventricular septal defect, or tetralogy of Fallot.
  • Atresia of the choanae: Blockage of the nasal passages, which can cause breathing difficulties.
  • Retardation of growth and/or development: This can include physical growth delays, intellectual disability, and delays in speech and language development.
  • Genital abnormalities: These can include undescended testes in males and abnormalities of the uterus or vagina in females.
  • Ear abnormalities: These can include hearing loss and abnormalities of the outer ear, middle ear, or inner ear.

Diagnosis

Diagnosis of CHARGE syndrome is based on clinical criteria, and can be confirmed by genetic testing for mutations in the CHD7 gene.

Treatment

Treatment for CHARGE syndrome is symptomatic and supportive, and may include surgery to correct heart defects or choanal atresia, hearing aids or cochlear implants for hearing loss, and special education services for developmental delays.

External links

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