Parents

Néstor-Guillermo Progeria Syndrome is a very rare genetic condition caused by a change in a gene called BANF1, affecting how the body grows and develops over time. It is a condition that children inherit from their parents; specifically, a child gets one copy of the mutated BANF1 gene from each parent, who are usually just carriers and don’t show any symptomatology themselves.

Children with this syndrome grow more slowly than expected, have little body fat, thin arms and legs, stiff joints, and may appear older than their actual age. They can also experience serious bone related issues that may impact their quality of life and how long they live. These problems may include undeveloped facial features, small or missing collarbones, bone loss in the fingers and toes, fragile bones, and an abnormal thorax. Unlike patients with the better-known type of progeria, people with NGPS usually don’t develop diabetes, high blood fat levels, or heart problems, and they reach adulthood.