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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

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Hutchinson-Gilford progeria syndrome

ORPHA:740

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

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