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COFFINLOWRY SYNDROME [1 record]

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Record 1 2019-11-21

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Musculoskeletal System
  • Mental Disorders
CONT

The Coffin–Lowry syndrome (CLS) is a rare X‐linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations.

French

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

Le syndrome de Coffin-Lowry (CLS) est une maladie malformative très sévère, associant notamment un retard mental important et des déformations squelettiques progressives. Il s'agit d'une maladie liée au chromosome X (les garçons étant sévèrement atteints, les filles hétérozygotes manifestant, en général, des signes discrets de la maladie).

OBS

CLS : sigle emprunté à l'anglais; correspond au terme «Coffin–Lowry syndrome».

Spanish

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