Specific FBN1 variants are associated with an increased risk for severe mitral regurgitation and surgery in Marfan syndrome.

Researchers from the University of São Paulo (Brazil) first proposed using eccentric training as a promising intervention to address musculoskeletal impairments associated with Marfan syndrome.

There's a new development in the yearslong international mystery over Havana Syndrome: The U.S. has obtained and has been testing a device that officials believe could be linked to the debilitating ...

Weaver syndrome is a rare genetic condition that causes rapid growth during childhood. The main sign is tall stature, but some people also experience facial and cognitive irregularities. Weaver ...

Long QT syndrome is a leading cause of sudden death in young persons, with a prevalence exceeding 1 in 2000. It is characterized by prolongation of the QT interval, aberrant T-wave morphologic ...

The University of Missouri is breaking new ground in the treatment of genetic disorders, and it’s starting with Marfan syndrome — a potentially fatal genetic disorder that weakens the aorta, the heart ...

The 2025 Kingsland grad put his athletic dreams on hold when he was diagnosed with Marfan syndrome at age 14. He had surgery to repair his aorta two years ago, but eventually started playing again.

Main character syndrome is the perception that your life is a story or a movie where you’re the central character. A term that was born on social media, it’s not a true syndrome or mental disorder.

Cutting-edge gene editing technology could eradicate Down syndrome, according to Japanese scientists. Down syndrome, which causes a range of developmental differences and affects 1 in 700 newborns in ...

One of the priority objectives of research into rare diseases is to develop new treatments, and orphan medicines — which target conditions affecting no more than 5 in 10,000 people in the EU — provide ...

The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which has no cure to date. This disease ...