Summary about Disease
Williams-Beuren syndrome (WBS) is a rare genetic disorder that affects many parts of the body. It is characterized by developmental delays, learning challenges, distinctive facial features, heart and blood vessel problems, and an unusually cheerful demeanor. People with WBS often have outgoing personalities and a high level of empathy.
Symptoms
Symptoms of WBS vary but can include:
Distinctive facial features: broad forehead, short nose, wide mouth, full lips, small chin.
Heart defects: Supravalvular aortic stenosis (SVAS) is common.
Developmental delays and learning difficulties.
Intellectual disability: ranges from mild to moderate.
Hypercalcemia: elevated calcium levels in infancy.
Feeding problems in infancy.
Outgoing personality and social difficulties.
Dental problems.
Musculoskeletal problems.
Kidney abnormalities.
Attention deficit hyperactivity disorder (ADHD).
Causes
WBS is caused by a deletion of genetic material from a specific region on chromosome 7. This deletion typically includes more than 25 genes, including the elastin gene (ELN). The loss of the ELN gene is thought to be responsible for many of the cardiovascular and connective tissue problems associated with the syndrome. The deletion is usually random and not inherited, meaning it's not passed down from parents.
Medicine Used
There is no cure for WBS, so treatment focuses on managing symptoms and preventing complications. Medications used can include:
Medications to manage high blood pressure and heart conditions.
Calcium regulation: Monitoring and dietary management of hypercalcemia.
Developmental therapies: Speech therapy, occupational therapy, and physical therapy.
Behavioral therapy for ADHD or other behavioral issues.
Is Communicable
No, Williams-Beuren syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since WBS is a genetic condition, there are no precautions to prevent it from developing in an individual after conception. However, genetic counseling may be helpful for families with a history of the syndrome who are considering having children. Regular medical checkups are crucial to monitor and manage any health problems, particularly heart conditions and calcium levels.
How long does an outbreak last?
WBS is not an outbreak, it is a genetic condition present from birth, so the question does not apply. The symptoms and health issues associated with it are lifelong and require ongoing management.
How is it diagnosed?
WBS is diagnosed through a combination of clinical evaluation and genetic testing.
Clinical Evaluation: Evaluation of physical characteristics, developmental milestones, and medical history.
Genetic Testing: Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) to detect the deletion on chromosome 7.
Timeline of Symptoms
The timeline of symptoms varies from person to person, but generally:
Infancy: Feeding difficulties, hypercalcemia, heart murmur.
Early Childhood: Developmental delays, distinctive facial features, outgoing personality.
Childhood/Adolescence: Learning disabilities, behavioral challenges, heart problems may worsen.
Adulthood: Continued monitoring for heart and kidney problems, management of chronic health conditions.
Important Considerations
Early diagnosis and intervention are crucial to optimize development and health outcomes.
Individuals with WBS require comprehensive, multidisciplinary care from specialists such as cardiologists, endocrinologists, developmental pediatricians, and therapists.
Lifelong monitoring for potential health complications is necessary.
Support groups and organizations can provide valuable resources and emotional support for individuals with WBS and their families.