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Hutchinson-Gilford progeria syndrome, childhood-onset

MedGen UID:
442435
Concept ID:
C2750285
Disease or Syndrome
Synonym: Progeria syndrome, childhood-onset
 
OMIM®: 176670

Definition

People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

Fisher HG, Patni N, Scheuerle AE
Am J Med Genet A 2020 Oct;182(10):2399-2402. Epub 2020 Aug 12 doi: 10.1002/ajmg.a.61777. PMID: 32783369
Oshima J, Kato H, Maezawa Y, Yokote K
Mech Ageing Dev 2018 Jul;173:80-83. Epub 2018 May 9 doi: 10.1016/j.mad.2018.05.002. PMID: 29752965Free PMC Article
Oshima J, Hisama FM
Gerontology 2014;60(3):239-46. Epub 2014 Jan 3 doi: 10.1159/000356030. PMID: 24401204Free PMC Article
Akhbari P, Jha S, James KD, Hinves BL, Buchanan JA
J Pediatr Orthop B 2012 Nov;21(6):563-6. doi: 10.1097/BPB.0b013e3283528ddd. PMID: 22433957

Diagnosis

Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga-Jauregui C, Shuldiner AR, Darawshe M, Bazak L, Lidzbarsky G, Shomron N, Basel-Salmon L, Goldberg Y
Clin Genet 2021 May;99(5):713-718. Epub 2021 Feb 15 doi: 10.1111/cge.13929. PMID: 33491183
Fisher HG, Patni N, Scheuerle AE
Am J Med Genet A 2020 Oct;182(10):2399-2402. Epub 2020 Aug 12 doi: 10.1002/ajmg.a.61777. PMID: 32783369
Akhbari P, Jha S, James KD, Hinves BL, Buchanan JA
J Pediatr Orthop B 2012 Nov;21(6):563-6. doi: 10.1097/BPB.0b013e3283528ddd. PMID: 22433957

Prognosis

Akhbari P, Jha S, James KD, Hinves BL, Buchanan JA
J Pediatr Orthop B 2012 Nov;21(6):563-6. doi: 10.1097/BPB.0b013e3283528ddd. PMID: 22433957

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