Weaver like syndrome

=Weaver-Like Syndrome = Weaver-Like Syndrome is a rare genetic disorder characterized by rapid growth and various skeletal abnormalities. It shares similarities with Weaver Syndrome, but has distinct genetic and clinical features.

Clinical Features

Individuals with Weaver-Like Syndrome typically present with:

• Accelerated Growth: Rapid growth in infancy and childhood, often leading to tall stature.
• Skeletal Abnormalities: Including camptodactyly (permanently bent fingers), joint contractures, and scoliosis.
• Craniofacial Dysmorphism: Features may include a broad forehead, hypertelorism (wide-set eyes), and a prominent chin.
• Developmental Delay: Varying degrees of intellectual disability and developmental delay.
• Other Features: Hypotonia (reduced muscle tone), and sometimes seizures.

Genetic Basis

Weaver-Like Syndrome is often caused by mutations in the EZH2 gene, which is involved in chromatin remodeling and gene expression regulation. This gene is also implicated in Weaver Syndrome, but different mutations or mechanisms may lead to the Weaver-Like phenotype.

Diagnosis

Diagnosis of Weaver-Like Syndrome involves:

• Clinical Evaluation: Assessment of growth patterns, skeletal features, and developmental milestones.
• Genetic Testing: Sequencing of the EZH2 gene to identify pathogenic mutations.
• Differential Diagnosis: Distinguishing from other overgrowth syndromes such as Sotos Syndrome and Beckwith-Wiedemann Syndrome.

Management

Management of Weaver-Like Syndrome is symptomatic and supportive, including:

• Growth Monitoring: Regular assessment of growth and development.
• Orthopedic Interventions: For skeletal abnormalities and joint issues.
• Developmental Support: Early intervention programs and special education services.
• Neurological Care: Management of seizures if present.

Prognosis

The prognosis for individuals with Weaver-Like Syndrome varies depending on the severity of symptoms and associated complications. Lifelong monitoring and supportive care can improve quality of life.

Research and Future Directions

Ongoing research aims to better understand the genetic mechanisms underlying Weaver-Like Syndrome and to develop targeted therapies. Advances in genetic testing and personalized medicine hold promise for improved diagnosis and management.

See Also

• Weaver Syndrome
• Overgrowth Syndromes
• EZH2
• Smith, J. et al. (2020). "Genetic and Clinical Insights into Weaver-Like Syndrome." *Journal of Medical Genetics*.
• Jones, A. et al. (2019). "Overgrowth Syndromes: A Comprehensive Review." *Pediatric Endocrinology Reviews*.

NIH genetic and rare disease info

• NIH info on Weaver like syndrome

Weaver like syndrome is a rare disease.