Usually within the first year of life, growth of a child with progeria slows markedly, but motor development and intelligence remain normal.
Signs and symptoms of this progressive disorder include a distinctive appearance:
- Slowed growth, with below-average height and weight
- Narrowed face, small lower jaw, thin lips and beaked nose
- Head disproportionately large for the face
- Prominent eyes and incomplete closure of the eyelids
- Hair loss, including eyelashes and eyebrows
- Thinning, spotty, wrinkled skin
- Visible veins
- High-pitched voice
Signs and symptoms also include health issues:
- Severe progressive heart and blood vessel (cardiovascular) disease
- Hardening and tightening of skin on the trunk and extremities (similar to scleroderma)
- Delayed and abnormal tooth formation
- Some hearing loss
- Loss of fat under the skin and loss of muscle mass
- Skeletal abnormalities and fragile bones
- Stiff joints
- Hip dislocation
- Insulin resistance
When to see a doctor
Progeria is usually detected in infancy or early childhood, often at regular checkups, when a baby first shows the characteristic signs of premature aging.
If you notice changes in your child that could be signs and symptoms of progeria, or you have any concerns about your child's growth or development, make an appointment with your child's doctor.
A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable. This appears to lead to progeria's aging process.
Unlike many genetic mutations, progeria is rarely passed down in families. The gene mutation is a rare, chance occurrence in the majority of cases.
Other similar syndromes
There are other progeroid syndromes that do run in families. These inherited syndromes cause rapid aging and a shortened life span:
- Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
- Werner syndrome, also known as adult progeria, begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.
There are no known factors, such as lifestyle or environmental issues, which increase the risk of having progeria or of giving birth to a child with progeria. Progeria is extremely rare. For parents who have had one child with progeria, the chances of having a second child with progeria are about 2 to 3 percent.
Children with progeria usually develop severe hardening of the arteries (atherosclerosis). This is a condition in which the walls of the arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including:
- Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure
- Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in stroke
Other health problems frequently associated with aging — such as arthritis, cataracts and increased cancer risk — typically do not develop as part of the course of progeria.