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Hutchinson-Gilford progeria syndrome

Orpha number ORPHA740
Synonym(s) Progeria
Prevalence <1 / 1 000 000
  • Autosomal recessive
  • Autosomal dominant
Age of onset Neonatal/infancy
  • E34.8
  • C0033300
  • D011371
  • 10036794
  • 238870004


Hutchinson-Gilford progeria syndrome is an extremely rare disorder characterized by premature aging of postnatal onset. The main clinical and radiological features include alopecia, thin skin, hypoplasia of nails, loss of subcutaneous fat, stiffness of joints and osteolysis. Intelligence is not impaired. Early death is caused by atherosclerosis or cerebrovascular disease, and failure to thrive. Most cases are sporadic, caused by a de novo dominant recurrent truncating mutation within the lamin A gene. Numerous progeroid syndromes represent differential diagnoses for this entity.

Expert reviewer(s)

  • Pr Valérie CORMIER-DAIRE
  • Pr Laurence FAIVRE-OLIVIER

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Detailed information

Clinical genetics review
  • EN (2012)
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