progeria
Information, Symptoms, Treatments and Resources
Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.
Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is not seen in siblings of affected children, although -- in very rare circumstances -- more than one child in a family can have the condition.
- 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 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)
Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
Genetic testing can detect mutations in lamin A that cause progeria.
Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.
Call for an appointment with your health care provider if you child does not appear to be growing or developing normally.
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