FaCD Online Syndrome Fact Sheet

Last updated: 05 Aug 2008

Name: Hutchinson-Gilford Progeria Syndrome

Synonym: HGPS, Progeria

Mode of Inheritance: AD(de novo)?

Genes

LMNA, mapped to 1q21.2

Tumor features (possible)

osteosarcoma

Non-tumor features

alopecia
micrognathia
nose, beaked
premature aging
short stature

Comment

Hutchinson-Gilford progeria is one of the rare premature aging syndromes[1]. Osteosarcoma has been reported in 2 girls with progeria, aged 11 and 13[2,3].

References

[1] Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. The New England journal of medicine 2008; 358(6):592-604.
[2] King CR, Lemmer J, Campbell JR, Atkins AR. Osteosarcoma in a patient with Hutchinson-Gilford progeria. J Med Genet 1997; 15(6):481-484.
[3] Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. An association of Hutchinson-Gilford progeria and malignancy. American journal of medical genetics. Part A 2007; 143A(16):1821-6.