What Is Neonatal Progeria?
Listen. Neonatal Progeroid Syndrome Is a Rare Genetic Syndrome Characterized by an Aged Appearance at Birth. Other Signs and Symptoms Include Intrauterine...
Listen. Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia , developmental delay and mild to severe intellectual disability .
What is the cause of neonatal progeria?
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.
How long do progeria patients live?
The average lifespan for people with progeria is 13 years, although some people live into their 20s.
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