From Wikipedia, the free encyclopedia

Progeria
SynonymsHutchinson–Gilford progeria syndrome (HGPS), progeria syndrome
Hutchinson-Gilford Progeria Syndrome.png
A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom).
Pronunciation
SpecialtyMedical genetics
SymptomsGrowth delay, short height, small face, hair loss
ComplicationsHeart disease, stroke, hip dislocations
Usual onset9–24 months
CausesGenetic
Diagnostic methodBased on symptoms, genetic tests
Differential diagnosisHallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome
TreatmentMostly symptomatic
MedicationLonafarnib
PrognosisAverage age of death is 13 years
FrequencyRare (1 in 18 million)

Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. Progeria is one of several progeroid syndromes. Those born with progeria typically live to their mid-teens to early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited, as carriers usually do not live to reproduce. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson–Gilford progeria syndrome (HGPS).

Progeria was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson–Gilford progeria syndrome. The word progeria comes from the Greek words "pro" (πρό), meaning "before" or "premature", and "gēras" (γῆρας), meaning "old age". Scientists are interested in progeria partly because it might reveal clues about the normal process of aging.

Signs and symptoms