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Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic and rapid appearance of aging; symptoms begin in early childhood.
Progeria syndrome is very rare; only about 130 individuals have been diagnosed since 1886.
Signs and symptoms may include facial changes such as thin, beaked-tipped nose, a small chin, thin lips, protruding ears and prominent eyes; other non-facial features may include joint abnormalities, loss of fat under the skin, hair loss, and aged-looking skin but the child’s intellect and motor skills are usually not altered.
Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome due to production of an abnormal lamin A protein.
People inherit the disease; only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene.