Hutchinson–Gilford progeria syndrome
| Progeria | |
|---|---|
| Synonyms | Hutchinson–Gilford progeria syndrome (HGPS), progeria syndrome |
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| A young girl with progeria (left). A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). | |
| Pronunciation | |
| Specialty | Medical genetics |
| Symptoms | Growth delay, short height, small face, hair loss |
| Complications | Heart disease, stroke, hip dislocations |
| Usual onset | 9–24 months |
| Causes | Genetic |
| Diagnostic method | Based on symptoms, genetic tests |
| Similar conditions | Hallermann–Streiff syndrome, Gottron's syndrome, Wiedemann–Rautenstrauch syndrome |
| Treatment | Mostly symptomatic |
| Medication | Lonafarnib |
| Prognosis | Average age of death is 13 years |
| Frequency | Rare (1 in 18 million) |
| Classification | |
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| External resources |
Progeria is an extremely rare 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" (), meaning "before" or "premature", and "gēras" (), meaning "old age". Scientists are partly interested in progeria as it might reveal clues about the normal process of aging.
Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent usually around 18–24 months. Limited growth, full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow recessed jaw, and a pinched nose) are all characteristics of progeria. Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, and cardiovascular problems. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. The face is usually wrinkled, with a larger head in relation to the body, a narrow face and a beak nose. Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population. Individuals usually retain typical mental and motor development.
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