In this insightful video, a woman shares her personal experience living with Marfan Syndrome, a rare condition that has affected her chest and caused unusually long limbs. She talks about how the ...

“We need to be inclusive; there is a lot we can do to help Down syndrome individuals reach ... “No one should be left behind irrespective of chromosome numbers: end the stereotypes and don ...

2 Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA 3 Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA 4 Department of Human ...

for the treatment of hyperphagia in adults and children 4 years of age and older with Prader-Willi syndrome (PWS). Soleno expects VYKAT XR to be available in the U.S. beginning in April 2025.

Among the seven duplication patients, six families were informative. Of these, five showed that the rearranged chromosome was of paternal origin. For two cases the duplication arose through an ...

Shprintzen–Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys–Dietz syndromes. These syndromes have commonly been ...

A 15-year-old Kentucky girl — a “fighter,” who was born with down syndrome and survived leukemia — has died from COVID-19. Alexa Rose Veit, from Ballard County in Western Kentucky ...