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

Vitamin D link to short-sightedness ruled out

New findings from the Children of the 90s study at the University of Bristol suggest that children with low levels of vitamin D in their blood are not at increased risk of developing myopia (short-sightedness).

Echolocation acts as substitute sense for blind people

Recent research carried out by scientists at Heriot-Watt University has demonstrated that human echolocation operates as a viable 'sense', working in tandem with other senses to deliver information to people with visual impairment.

Bone loss drugs may help prevent endometrial cancer

A new analysis suggests that women who use bisphosphonates—medications commonly used to treat osteoporosis and other bone conditions—have about half the risk of developing endometrial cancer as women who do not use the ...