Weaver syndrome

Weaver Syndrome

Weaver syndrome (pronounced: wee-ver sin-drome), also known as Weaver-Smith syndrome, is a rare genetic disorder characterized by rapid growth starting in the prenatal period and continuing through the early years of life. The syndrome was first described by David Weyhe Smith and David D. Weaver in 1974.

Etymology

The syndrome is named after David D. Weaver, a geneticist who, along with David Weyhe Smith, first described the condition in 1974.

Symptoms

Weaver syndrome is characterized by a number of symptoms, including overgrowth, advanced bone age, distinctive facial features, and developmental delay. The facial features may include a large head (macrocephaly), a prominent forehead (frontal bossing), wide-set eyes (hypertelorism), and a small lower jaw (micrognathia). Other features may include soft or loose skin, and unusually large hands and feet.

Causes

Weaver syndrome is caused by mutations in the EZH2 gene. This gene provides instructions for making an enzyme that plays a crucial role in the development of many different tissues and organs before birth.

Diagnosis

Diagnosis of Weaver syndrome is based on clinical features, including physical characteristics and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the EZH2 gene.

Treatment

There is currently no cure for Weaver syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.

Related Terms

• Overgrowth syndrome
• EZH2
• Macrocephaly
• Hypertelorism
• Micrognathia

External links

• Medical encyclopedia article on Weaver syndrome
• Wikipedia's article - Weaver syndrome

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