Progeria

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

Coronary artery blockage

Hutchinson-Gilford syndrome

• Growth failure during the first year of life
• Narrow, wizened (shrunken or wrinkled) bird-like faces
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly )
• Soft spot (fontanelle) remains open
• Small jaw (micrognathia )
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

The signs include:

• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
• Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
• There may be early atherosclerosis of blood vessels leading to abnormal stress tests of the heart

Mutations in lamin A that cause progeria can be found using gene sequencing, but this is not usually needed for diagnosis.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.