What is Progeria?

Oct. 7, 2024

Sammy Basso, who was the longest-living survivor of the rare genetic disease progeria, recently died at the age of 28.

About Progeria: 

  • Progeria, also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. 
  • It causes children to age rapidly.
  • A tiny genetic mutation causes the disease.
  • It is reported to occur in 1 in 4 million newborns worldwide. 
  • Newborns with the disorder appear to be healthy at birth but usually start to show signs of premature aging during their first one to two years of life. 
  • Their growth rate slows, and they don’t gain weight as expected. 
  • Progeria doesn't affect a child's intelligence or brain development.
  • However, their rapid aging causes distinct physical characteristics, including:
  • Hair loss (baldness).
  • Prominent eyes.
  • Aged, wrinkled skin.
  • A thin, beaked nose.
  • Disproportionately small face compared to head size.
  • Loss of fat under the skin.
  • As children with progeria get older, they get diseases you'd expect to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. 
  • The condition is always fatal. Heart problems or strokes are the eventual cause of death in most children with progeria. 
  • The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger, and others may live longer, even to about 20 years.

There's no cure for progeria. A drug called lonafarnib has been shown to slow down the progression of the disease.