Weaver–Williams syndrome

Weaver–Williams syndrome is a rare genetic disorder characterized by rapid growth starting in the prenatal period and continuing through the early years of life, distinctive facial features, and various skeletal anomalies. The syndrome was first described by David Weaver and Colleagues in 1974, and further detailed by Williams and colleagues, hence the name Weaver–Williams syndrome. It is also commonly referred to simply as Weaver syndrome.

Symptoms and Characteristics

Weaver–Williams syndrome presents a unique set of symptoms and characteristics, including but not limited to:

• Rapid growth: Individuals with Weaver–Williams syndrome experience accelerated growth rates from before birth. This rapid growth continues into early childhood but usually normalizes by adolescence.
• Facial features: Distinctive facial features may include a broad forehead, large ears, a long philtrum, and a small chin.
• Skeletal anomalies: These can include camptodactyly (permanently bent fingers or toes), talipes equinovarus (clubfoot), and scoliosis.
• Intellectual development: While intellectual development can vary widely among individuals with Weaver–Williams syndrome, some may experience learning disabilities or developmental delays.
• Muscle tone: Hypotonia (low muscle tone) is common in infancy, which can delay the development of motor skills such as sitting and walking.

Causes

Weaver–Williams syndrome is caused by mutations in the EZH2 gene on chromosome 7. This gene plays a crucial role in the development and function of many parts of the body by helping control the activity of other genes. Mutations in the EZH2 gene disrupt the normal regulation of gene activity, leading to the various symptoms associated with the syndrome.

Diagnosis

Diagnosis of Weaver–Williams syndrome is based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm a diagnosis by identifying a mutation in the EZH2 gene. Prenatal growth patterns observed through ultrasound may also suggest the presence of the syndrome.

Treatment

There is no cure for Weaver–Williams syndrome, and treatment focuses on managing symptoms and supporting the individual's development. This may include:

• Growth monitoring: Regular monitoring of growth and development to identify and address any issues early on.
• Educational support: Tailored educational programs to support learning and development.
• Physical therapy: To improve muscle tone and motor skills.
• Surgical interventions: For skeletal anomalies such as scoliosis or clubfoot, if necessary.

Prognosis

The prognosis for individuals with Weaver–Williams syndrome varies depending on the severity of symptoms. With appropriate medical and developmental support, many individuals can lead healthy, fulfilling lives.

See Also

• Genetic disorder
• EZH2
• Camptodactyly
• Talipes equinovarus
• Scoliosis

Weaver–Williams syndrome Resources
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