Gilford 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

• Atheroscleroiss.
• Heartattack.
• Stroke.
• Cataracts.
• Osteoarthritis.
• Neurodegenration.
• Cancer predisposition.