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Hutchinson-Gilford progeria syndrome

Orpha number ORPHA740
Synonym(s) Progeria
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • E34.8
OMIM
UMLS
  • C0033300
MeSH
  • D011371
MedDRA
  • 10036794
SNOMED CT
  • 238870004

Summary

Hutchinson-Gilford progeria syndrome is a rare, uniformly fatal, autosomal dominant, and premature aging disease, beginning in childhood. Affected children typically look normal at birth and in early infancy, but then present a 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). Additional features include delayed dentition, a thin and high pitched voice, a pyriform (pear-shaped) thorax, severe arteriosclerosis beginning in childhood (leading to angina, stroke, congestive heart failure), a 'horse riding' stance, joint abnormalities, osteolysis of the distal phalanges, and loss of subcutaneous fat. Hutchinson-Gilford progeria syndrome does not disturb intellectual or motor skills development.

Expert reviewer(s)

  • Pr Laurence FAIVRE-OLIVIER

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Detailed information

Clinical genetics review
  • EN (2012)
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