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CHARGE syndrome

Codes

IDC-10: Q87.8

ORPHA: 134

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
5-12:100,000 live births.
Cause
The symptoms appear during early foetal development and are most often caused by gene mutations or deletions on chromosome 8 (the CHD7-gene).
General symptoms
Coloboma (keyhole-shaped clefting of the eye)
H  Heart defects of varying severity
A  Atresia of the choanae (constriction of the passage between nose and throat)
R  Retardation of growth and/or mental development
G  Genital hypoplasia (underdeveloped sexual organs)
E  Ear anomalies (abnormalities of the outer ear and/or hearing loss)

All children with Charge syndrome will not have all the symptoms. Symptoms may also differ regarding degree of severity.

Images

Characteristic facial features in CHARGE syndrome:
Square face. Bowl-shaped ears. Asymmetrically set ears. Ocular coloboma. Microphthalmos. Cleft lip and palate. Facial palsy.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. Facial palsy may occur, as well as cleft lip, jaw and palate. Cardiac malformations and malformations in the respiratory and gastrointestinal tract will often cause feeding impairment. Delayed speech and language are common due to a combination of causes such as hearing impairment, learning disability, cleft lip and palate or oral motor dysfunction. Some have difficulties with daytime teeth grinding or drooling.

Advice on follow-up and treatment

  • In cases of craniofacial deformities, a specialist team will be needed for follow up and treatment.
  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • Tooth grinding should be followed up, and be managed with a splint when necessary.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center.
  • Training in oral motor skills in cases of eating disorders, speech difficulties and drooling may be relevant.
  • Communication skills training is frequently essential.
  • When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc).

Sources

Rare diseases
Updated: 0001-01-01 00:00