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Progeria

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 521 Accesses

In 1886, Hutchinson described a boy with congenital alopecia, wrinkled atrophic skin, an odd facies, joint contractures, and normal intelligence. Subsequently in 1904, Gilford reported a second patient with similar features and suggested the term progeria, from the Greek word geras meaning old age, to describe the premature senile characteristics of the patients. Thus, the syndrome is also known as Hutchinson–Gilford progeria syndrome (HGPS).

Progeria is an extremely rare condition with characteristic clinical findings of premature and accelerated aging. Its incidence was estimated to be one per eight million live births in the United States. Male to female ratio is about 1.5–1. Most reported patients are Caucasians (Badame 1989).

Synonyms and Related Disorders

Hutchinson–Gilford progeria syndrome

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal dominant inheritance

    1. a.

      Advanced paternal age effect observed

    2. b.

      Germinal mosaicism responsible for rare instances of affected sibs

      ...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Progeria. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_197

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