It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-
Charcot syndrome (a variant of this syndrome)
It is a rare disorder charecterized by premature senility in children. It can occur in both sexes.
It is caused due to mutation in the Lamina A gene. It casues death mainly due to development of coronary artery disease. The death can occur as early as 16 years.
Features of Gilford's syndrome
- Wizened old man facial appearance with small face,small jaw and pinched nose.
- Faiure to thrive.
- Alopecia.
- Premature body aginf (progeria).
- Dwarfism.
- Large skull.
- Bird like features.
- Atrophy of muscles and skin.
- Loss of subcutaneous fat.
- High serum lipid levels.
- Early atherosclerotic changes in vessels.
The child is usually normal at birth. Intelligence is normal.
Treatment
There is no effective treatment.
Complications