THIRD EDITION
Factsheet
Condition:
Progeria (Hutchinson-Gilford progeria syndrome)
Inheritance:
De novo dominant mutation
Genetic Etiology:
Mutation in LMNA gene that encodes lamin A/C protein.
Frequency:
Approximately 1/4,000,000 births
Clinical features:
Though normal at birth, failure to thrive occurs in early childhood, with development of characteristic facial appearance including loss of hair and subcutaneous fat. Severe atherosclerosis develops, which is the usual cause of death. Intelligence is normal.
Management:
Supportive care
Genetic counseling:
Cases almost always sporadic, with rare possibility of germline mosaicism.