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Hutchinson-Gilford progeria syndrome

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).

ORPHA:740

Classification level: Disorder
  • Synonym(s):
    • HGPS
    • Progeria
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E34.8
  • ICD-11: LD2B
  • OMIM: 176670
  • UMLS: C0033300
  • MeSH: D011371
  • GARD: 7467
  • MedDRA: 10036794

  A summary on this disease is available in Italiano (2005) Español (2014) Français (2014) Nederlands (2014) Deutsch (2003) Português (2003)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.