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BANNAYAN-RILEY-RUVALCABA SYNDROME [1 record]

Record 1 2014-05-02

English

Subject field(s)
  • Human Diseases - Various
  • Epidermis and Dermis
DEF

A genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males.

OBS

The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.

French

Domaine(s)
  • Maladies humaines diverses
  • Épiderme et derme
DEF

Affection hamartomateuse autosomique dominante caractérisée par une macrocéphalie, une polypose intestinale, un retard des acquisitions et des anomalies de la pigmentation génitale chez l'homme.

OBS

[Le syndrome] s'associe à des mutations du gène PTEN et comporte un risque élevé de tumeurs, essentiellement bénignes, digestives, de la thyroïde, du sein ou du système nerveux.

Spanish

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