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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: DisorderA summary on this disease is available in Italiano (2005) Español (2014) Français (2014) Nederlands (2014) Deutsch (2003) Português (2003)
Detailed information
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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