© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Weaver Syndrome

Description:
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.

Testing:
In a small number of cases, mutations in NSD1 have been identified. Research testing available.

More information:
Weaver Syndrome