Weaver Syndrome

Gene discovered for Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...

Dec 15, 2011
popularity 4 / 5 (1) | comments 0 | with audio podcast

Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974.

It can be associated with NSD1. A second gene Histone-lysine N-methyltransferase has also been associated with this disease.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

New diagnostic method identifies genetic diseases

People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. Scientists ...