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Hutchinson-Gilford progeria syndrome

Synonym(s) HGPS
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
  • E34.8
  • C0033300
  • D011371
  • 10036794


Disease definition

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

Expert reviewer(s)

  • Pr Laurence OLIVIER-FAIVRE

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Detailed information

Clinical genetics review
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