Hutchinson-Gilford progeria syndrome is a rare, uniformly fatal, autosomal dominant, and premature aging disease, beginning in childhood. Affected children typically look normal at birth and in early infancy, but then present a growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). Additional features include delayed dentition, a thin and high pitched voice, a pyriform (pear-shaped) thorax, severe arteriosclerosis beginning in childhood (leading to angina, stroke, congestive heart failure), a 'horse riding' stance, joint abnormalities, osteolysis of the distal phalanges, and loss of subcutaneous fat. Hutchinson-Gilford progeria syndrome does not disturb intellectual or motor skills development.
Last update: April 2014
- Pr Laurence FAIVRE-OLIVIER