Summary about Disease
Weaver syndrome is a rare genetic disorder characterized by tall stature, advanced skeletal maturation, characteristic facial features, and intellectual disability (ranging from mild to severe). It is a complex syndrome with variable expression, meaning that the severity and specific features can differ significantly between affected individuals.
Symptoms
Tall Stature: Accelerated growth and being significantly taller than peers.
Advanced Skeletal Maturation: Bones mature more quickly than normal.
Characteristic Facial Features: These can include a broad forehead, widely spaced eyes (hypertelorism), a flat occiput (back of the head), epicanthic folds (skin folds at the inner corners of the eyes), and a small jaw (micrognathia).
Intellectual Disability: Varies in severity.
Macrocephaly: Abnormally large head size.
Camptodactyly: Permanently bent fingers, most commonly the pinky finger.
Other possible findings: Muscle tone abnormalities, umbilical hernia, and developmental delays.
Causes
Weaver syndrome is most commonly caused by mutations in the EZH2 gene. This gene plays a critical role in regulating gene expression and development. Mutations in *EZH2* disrupt these processes, leading to the features of Weaver syndrome. In some cases, the cause is unknown.
Medicine Used
There is no specific medication that cures Weaver syndrome. Treatment focuses on managing individual symptoms and providing supportive care. This may include:
Physical therapy: To improve motor skills and coordination.
Occupational therapy: To help with daily living skills.
Speech therapy: To address communication difficulties.
Educational support: Tailored educational programs to meet individual learning needs.
Orthopedic interventions: To manage skeletal abnormalities.
Medications: To address specific symptoms such as seizures or behavioral problems, if present.
Is Communicable
No, Weaver syndrome is not communicable. It is a genetic disorder caused by a gene mutation, not an infectious agent.
Precautions
Since Weaver Syndrome is a genetic condition, there are no specific precautions to prevent it in an individual already carrying the mutation. Genetic counseling and testing may be considered for families with a history of the syndrome who are planning to have children. Management of symptoms is ongoing and requires specialized medical care.
How long does an outbreak last?
Weaver syndrome is not an infectious disease, so the concept of an "outbreak" does not apply. It is a lifelong condition.
How is it diagnosed?
Diagnosis is based on a combination of clinical findings, including:
Physical examination: Assessment of characteristic features.
Developmental assessment: Evaluation of cognitive and motor skills.
Radiological studies: X-rays to assess skeletal maturation.
Genetic testing: To identify mutations in the EZH2 gene. This is the most definitive method of diagnosis.
Timeline of Symptoms
Symptoms are typically present from birth or early childhood.
Prenatal/Infancy: Accelerated growth may be noticeable. Macrocephaly is often present at birth.
Early Childhood: Facial features become more apparent. Developmental delays and intellectual disability may be recognized. Skeletal maturation continues to advance.
Childhood/Adolescence: Tall stature becomes more prominent. Other associated features, such as camptodactyly, may be present. The specific timeline and severity of symptoms can vary considerably.
Important Considerations
Variability: The presentation of Weaver syndrome can vary significantly between individuals.
Multidisciplinary Care: Management requires a team of specialists, including geneticists, pediatricians, neurologists, therapists, and educators.
Genetic Counseling: Important for families to understand the inheritance pattern and recurrence risk.
Long-term Support: Individuals with Weaver syndrome often require ongoing support throughout their lives.
Early Intervention: Early diagnosis and intervention are crucial to optimize developmental outcomes.