Progeria: an Extremely Rare Genetic Condition

Progeria (also known as "Hutchinson–Gilford Progeria Syndrome",[1] "Hutchinson–Gilford syndrome",[2] and "Progeria syndrome"[2]) is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word Progeria comes from the Greek progeros meaning 'prematurely old'. The Greek word 'pro' means 'before', while the word 'geras' means 'old age' . The disorder has very low incidences and occurs in an estimated 1 per 8 million live births.[3] Those born with progeria typically live to their mid teens and early twenties.[4][5] It is a genetic condition that occurs as a new mutation (de novo), and is not inherited. 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.

Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging.[6][7][8] Progeria was first described in 1886 by Jonathan Hutchinson[9] and also described independently in 1897 by Hastings Gilford.[10] The condition was later named Hutchinson-Gilford Progeria Syndrome (HGPS).

Signs and symptomsThe earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristics of progeria. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eye sight, hair loss, and cardiovascular problems.

A child with this condition show signs of symptoms usually around 18-24 months. After being born a healthy looking baby, their height and weight suddenly fall below average for their age. Individuals generally retain...