CHARGE association in Sweden: malformations and functional deficits

Am J Med Genet A. 2005 Mar 15;133A(3):331-9. doi: 10.1002/ajmg.a.30563.


CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Adult
  • Autistic Disorder / pathology
  • Autistic Disorder / physiopathology
  • Child
  • Child, Preschool
  • Choanal Atresia / pathology*
  • Coloboma / pathology*
  • Deafness / pathology
  • Ear / abnormalities
  • Female
  • Genitalia / abnormalities
  • Growth Disorders / pathology
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Maternal Age
  • Paternal Age
  • Risk Factors
  • Sweden
  • Syndrome