From the Guidelines
The prognosis for Weaver syndrome is generally favorable, with most individuals having a normal life expectancy and variable degrees of intellectual disability, emphasizing the importance of regular monitoring and multidisciplinary management to address potential complications and improve quality of life. The syndrome is characterized by accelerated growth, advanced bone age, distinctive facial features, and variable developmental delay [ 1 ]. Medical management typically focuses on addressing specific symptoms, and regular monitoring is crucial, particularly during childhood, to address potential complications such as skeletal issues, neurological problems, and increased risk of certain cancers [ 1 ].
Key Considerations
- Life expectancy is generally normal for those without serious complications
- Intellectual disability can range from mild to moderate or severe
- Accelerated growth and advanced bone age are key features
- Distinctive facial features and variable developmental delay are common
- Regular monitoring is essential to address potential complications
Management and Intervention
- Multidisciplinary approach to address specific symptoms
- Early intervention services, including physical, occupational, and speech therapy, can significantly improve developmental outcomes
- Genetic counseling is recommended for affected individuals and their families, as Weaver syndrome is typically caused by mutations in the EZH2 gene and follows an autosomal dominant inheritance pattern [ 1 ]
- While there is no cure for Weaver syndrome, proper management of symptoms can lead to a good quality of life for most affected individuals.
From the Research
Weaver Syndrome Prognosis
The prognosis for Weaver syndrome is variable, with some individuals experiencing mild intellectual disability and others having more severe symptoms.
- Tall stature is very common, reported in >90% of affected individuals 2
- Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild 2
- Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry 2
- The identification of an EZH2 mutation can provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes 2
Growth and Development
- Accelerated growth and advanced bone age are consistent findings in Weaver syndrome 3
- Persons afflicted with Weaver syndrome appear to achieve supranormal heights despite a significant bone age advancement in their growth period 3
- The pattern of growth and maturation in children with Weaver syndrome may form an exception to the general rule that tall children with an advanced bone age mature early and thus attain a normal final height 3