Weaver syndrome

Weaver syndrome is a rare disorder that affects many parts of the body. It is mainly characterized by tall stature and a typical facial appearance, including features such as widely spaced eyes (hypertelorism) and a small or receding lower jaw (retrognathia). People with this condition may also experience variable intellectual challenges. In addition to the skeletal and facial features, individuals may have extra signs such as camptodactyly (bent fingers), soft and doughy skin, an umbilical hernia, and a low, hoarse cry. These features can vary from person to person. Scientific studies have connected this condition to changes in the EZH2 gene.

Common features of Weaver syndrome include tall stature, a distinct facial appearance with widely spaced eyes and a receding lower jaw, and variations in intellectual ability. Additional signs may include bent fingers (camptodactyly), soft skin, an umbilical hernia, and a low hoarse cry.

Weaver syndrome is associated with changes in the EZH2 gene. This genetic alteration plays a role in the development of the features seen in this condition. Further details about how these changes lead to the symptoms are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.