Hutchinson-Gilford syndrome

Overview

Type of disease: Rare conditions

Progeria is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. The most severe form of the disease is Hutchinson-Gilford progeria syndrome. As newborns, children with progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age. While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people like stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. Some children with progeria have undergone coronary artery bypass surgery and/or angioplasty in attempts to ease the life-threatening cardiovascular complications caused by progressive atherosclerosis. However, there currently is no treatment or cure for the underlying condition. Death occurs on average at age 13, usually from heart attack or stroke.  Progeria is caused by mutations in the LMNA gene.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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