Neonatal Progeroid Syndrome (NPS) facts for kids
Neonatal Progeroid Syndrome, also called Wiedemann-Rautenstrauch syndrome, is a very rare genetic condition. It makes babies look older than they are when they are born. This syndrome is caused by a change in a specific gene.
Babies with this syndrome often have a low birth weight and look like tiny elderly people. They might have thin hair, a long nose, and unusual facial features because they lose fat. Some may also have mild learning difficulties.
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What Causes Neonatal Progeroid Syndrome?
This syndrome happens because of a change in a gene called FBN1. This gene gives instructions for making a protein called fibrillin-1. This protein is important for building strong and flexible connective tissues in the body. When the FBN1 gene is changed, it affects how the body grows and develops.
The syndrome is also described as an "autosomal recessive" condition. This means a child needs to inherit two copies of the changed gene – one from each parent – to have the syndrome. If a child only gets one changed copy, they are usually just a "carrier" and don't show symptoms.
How Rare Is This Syndrome?
Neonatal Progeroid Syndrome is extremely rare. It affects fewer than 1 in a million births. So far, doctors have identified about 51 cases of this syndrome around the world.
Most children with NPS do not live very long. The average life expectancy is about 7 months. It is very rare for someone with NPS to live into their teenage years or adulthood.
When Was NPS First Discovered?
The syndrome was first officially described in 1979 by a doctor named Hans-Rudolf Wiedemann. He had seen two cases of the condition earlier, one in 1966 and another in 1977.
Another doctor, Thomas Rautenstrauch, also recognized the syndrome in two siblings in 1977. He thought it was a type of Progeria, which is another condition that makes people age very quickly. Because of these two doctors, the syndrome is also known as Wiedemann-Rautenstrauch syndrome.
What Are the Health Challenges?
Children with Neonatal Progeroid Syndrome can have problems with their bones and how their body uses fats and energy. These issues are part of the syndrome's effects on their growth and development.
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