TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

SYNDROME APERT [4 records]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2019-11-28

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Musculoskeletal System
DEF

A rare congenital condition in which premature closure of the cranial sutures results in malformation of the skull with characteristic facial features (such as widely spaced eyes and a prominent forehead) and fusion and webbing of the toes and fingers.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
  • Appareil locomoteur (Médecine)
CONT

Le syndrome d’Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds.

Spanish

Save record 1

Record 2 2018-03-22

English

Subject field(s)
  • Symptoms (Medicine)
  • The Skin
DEF

Excessive hairiness.

OBS

hirsutism: term officially approved by the Lexicon Project Committee (New Brunswick).

French

Domaine(s)
  • Symptômes (Médecine)
  • Appareil cutané
DEF

Développement exagéré du système pileux.

OBS

Chez l'homme, il s’agit d’une exagération de la pilosité normale, alors que chez la femme la distribution des poils est de type masculin. La pilosité est plus dense, le poil plus dru et plus pigmenté que dans l'hypertrichose [...] L'hirsutisme est l'un des caractères typiques du syndrome de Cushing et du syndrome d’Apert, et constitue une manifestation du cortico-surrénalisme, induit ou non.

OBS

hirsutisme : terme uniformisé par le Comité du projet de lexiques (Nouveau-Brunswick).

Spanish

Campo(s) temático(s)
  • Síntomas (Medicina)
  • Piel
Save record 2

Record 3 2012-03-01

English

Subject field(s)
  • Bones and Joints
DEF

A malformation syndrome recognizable at birth and characterized by premature craniosynostosis, syndactyly, and polydactyly.

Key term(s)
  • acrocephaly-syndactyly
  • acrosphenosyndactylia

French

Domaine(s)
  • Os et articulations
CONT

Il existe divers syndromes dans les acrocéphalo-syndactylies, le plus connu étant après le syndrome d’Apert, le syndrome de Pfeiffer.

Key term(s)
  • acrocéphalosyndactylie

Spanish

Save record 3

Record 4 2010-04-20

English

Subject field(s)
  • Genetics
CONT

Exclusive paternal origin of new mutations in Apert syndrome.

CONT

Progressive muscular dystrophy (PMD) is a group of inherited diseases marked by wasting and progressive weakness of the skeletal muscles. The involvement of other organs such as cardiac insufficiency and dilation of stomach can also be demonstrated by a careful examination. The genetic cause may be inherited by three modes of inheritance pattern (dominant, recessive, X-linked), or the gene may also be defective due to a new mutation.

French

Domaine(s)
  • Génétique
CONT

Comme l'achondroplasie, le syndrome d’Apert, maladie autosomique dominante, est rarement héritée d’un parent malade, mais survient le plus souvent de façon sporadique par néomutation chez un enfant issu de parents indemnes mais plus agés que la moyenne des couples.

Spanish

Save record 4

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