Progeria is a rare genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." The classic type is the Hutchinson-Gilford Progeria Syndrome which was first described in England in 1886 by Dr. Jonathan Hutchinson and again in 1886 and 1904 by Dr. Hastings Gilford.
How common is Progeria?
The classic syndrome that has a reported incidence of about 1 in 8 million newborns, and the total incidence is estimated to be about 1 in 4 million. It affects both sexes equally and all races. Since first described, more than 100 cases have been identified around the world. In this decade, children with Progeria have been reported in Algeria, Australia, Austria, Canada, Chile, China, England, France, Germany, Holland, Mexico, the Netherlands, Puerto Rico, South Africa, South America, Switzerland, Turkey, the United States, Venezuela, and Vietnam.
What are the features of Progeria?
The general characteristics are dwarfism, baldness, a pinched nose, small face and jaw relative to head size, delayed tooth formation, aged-looking skin, stiffness of joints, hip dislocations, generalized atherosclerosis, and cardiovascular problems. The children have a remarkably similar appearance, despite racial background. At present, there is no cure or specific treatment available.
What is the cause of Progeria?
The exact cause is unknown, but it is believed due to a single abnormal (mutant) gene.
How is Progeria diagnosed?
Because of the lack of a specific laboratory test at this time, the diagnosis must be based on the physical appearance of the individual. The diagnosis is usually made in the first or second year of life when skin changes and failure to gain weight become apparent.
