Notes

Progeria

Rare genetic disorder in which symptoms resembling aging manifest at a very early age.Encyclopedia Entry for Progeria :Progeria. Progeria is a rare condition. It is remarkable because its symptoms strongly resemble normal human aging, but it occurs in young children. In most cases, it is not passed down through families. It is rarely seen in more than one child in a family.Symptoms include: Growth failure during the first year of life Narrow, shrunken or wrinkled face Baldness Loss of eyebrows and eyelashes Short stature Large head for size of face ( macrocephaly ) Open soft spot (fontanelle) Small jaw ( micrognathia ) Dry, scaly, thin skin Limited range of motion Teeth - delayed or absent formation.The health care provider will perform a physical exam and order laboratory tests. This may show: Insulin resistance Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened) Generally normal cholesterol and triglyceride levels Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels. Genetic testing can detect changes in the gene ( LMNA ) that causes progeria.There is no specific treatment for progeria. Aspirin and statin medicines may be used to protect against a heart attack or stroke.Progeria Research Foundation, Inc. -- www.progeriaresearch.org.Progeria causes early death. People with the condition most often only live to their teenage years (average lifespan of 14 years). However, some can live into their early 20s. The cause of death is very often related to the heart or a stroke.Complications may include: Heart attack ( myocardial infarction) Stroke.Call your provider if your child does not appear to be growing or developing normally.Hutchinson-Gilford progeria syndrome; HGPS.Coronary artery blockage Coronary artery blockage.Gordon LB. Hutchinson-Gilford progeria syndrome.