Progeria

Progeria, also called Hutchinson-Gilford syndrome or Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic progeroid syndrome that causes children to age far faster than usual. It is caused by a mutation in the LMNA gene, which normally makes a protein that holds the cell nucleus together; the mutated gene produces an abnormal protein called progerin instead. Onset is usually between 9 and 24 months, with symptoms including growth delay, short stature, a small face and hair loss. Severe cardiovascular disease typically develops by puberty and is usually fatal, with an average age of death around 13 years. The condition is extremely rare, affecting about 1 in 18 million births. Diagnosis rests on symptoms and genetic testing; treatment is mostly symptomatic, though the drug lonafarnib was approved in November 2020.