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ACROCEPHALOSYNDACTYLY V [1 record]

Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Bones and Joints
CONT

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). ... In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).

Key term(s)
  • acrocephalosyndactyly type 5
  • acrocephalosyndactyly V

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
  • Os et articulations
CONT

Décrit par Pfeiffer en 1964, le syndrome de Pfeiffer est un syndrome héréditaire rare à transmission autosomique dominante associant une craniosténose, des pouces et des orteils élargis et déviés et une syndactylie partielle des mains et des pieds. [...] Il est causé par une mutation [...] des gènes FGFR-1 ou FGFR-2.

Key term(s)
  • acrocéphalosyndactylie de type 5

Spanish

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