TERMIUM Plus®

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CHARGE SYNDROME [1 record]

Record 1 2016-01-19

English

Subject field(s)
  • Human Diseases - Various
  • Sociology of persons with a disability
  • Pregnancy
CONT

CHARGE syndrome is a multiple congenital anomaly syndrome. The acronym CHARGE is based on cardinal features identified when the syndrome was first delineated-coloboma, congenital heart defects, choanal atresia, retardation of growth, developmental delay, genital abnormalities, ear abnormalities and deafness. A consistent feature of CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Neonates with CHARGE syndrome often have multiple life-threatening medical conditions.

French

Domaine(s)
  • Maladies humaines diverses
  • Sociologie des personnes handicapées
  • Grossesse
CONT

Le syndrome CHARGE est une maladie rare qui affecte différentes parties du corps. Il est à présent reconnu comme étant la cause majeure de la surdité et cécité congénitale. Le terme « CHARGE » est un acronyme des critères majeurs de cette maladie.

CONT

L'acronyme CHARGE désigne un ensemble de malformations congénitales comprenant un colobome, une cardiopathie, une atrésie des choanes, un retard statural et de développement, une hypoplasie génitale et une anomalie des oreilles. Plusieurs arguments sont en faveur d'une origine génétique dans ce syndrome, en particulier une concordance clinique observée chez les jumeaux monozygotes.

Spanish

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