Nestor-Guillermo progeria syndrome

Nestor-Guillermo progeria syndrome is a rare premature aging condition that is inherited in an autosomal recessive manner. It is characterized by early loss of fat tissue (lipoatrophy), low bone density (osteoporosis), and very severe bone loss (osteolysis). These changes can lead to significant skeletal abnormalities that impact the everyday lives of people with this condition. Unlike some other premature aging syndromes, there is no evidence of cardiovascular problems, diabetes mellitus, or high triglycerides. However, the profound skeletal issues remain a major concern for those living with the syndrome.

People with this condition experience noticeable early aging signs such as lipoatrophy, osteoporosis, and significant bone loss (osteolysis). These severe skeletal changes can greatly affect mobility and daily activities.

Nestor-Guillermo progeria syndrome is caused by changes in the BANF1 gene. The condition is inherited in an autosomal recessive manner, meaning that a child must receive an altered copy of the gene from each parent to develop the syndrome.

Information about treatment is currently limited for this condition.

Although detailed long-term outlooks are not available, the severe skeletal abnormalities associated with Nestor-Guillermo progeria syndrome can significantly affect a person’s quality of life. More research is needed to understand the complete prognosis for this condition.

Information about current research and future directions is currently limited for this condition.