Summary about Disease
Williams syndrome (WS) is a rare genetic disorder characterized by developmental delays, learning difficulties, distinctive facial features (often described as "elfin" features), and cardiovascular problems. Individuals with WS often have an outgoing and overly friendly personality.
Symptoms
Distinctive Facial Features: Broad forehead, short nose, full cheeks, wide mouth with full lips, small chin.
Cardiovascular Problems: Supravalvular aortic stenosis (SVAS) is common, as well as other heart defects.
Developmental Delays and Learning Disabilities: Delayed speech, intellectual disability (usually mild to moderate).
Hypercalcemia: Elevated calcium levels in infancy or early childhood.
Feeding Problems: Colic, vomiting, and difficulty feeding as infants.
Musculoskeletal Problems: Joint laxity, hypotonia (low muscle tone).
Overly Friendly Personality: Excessive sociability, lack of social inhibitions, high levels of empathy.
Other: Dental problems, hernias, kidney abnormalities, short stature.
Causes
Williams syndrome is caused by a spontaneous deletion of genetic material from a specific region on chromosome 7. This deletion typically includes about 25-28 genes. The most commonly deleted gene is the elastin gene (ELN), which contributes to many features of the syndrome, particularly the cardiovascular issues. This deletion is not typically inherited; it usually occurs randomly during the formation of the egg or sperm.
Medicine Used
There is no specific cure for Williams syndrome, so medical treatment focuses on managing the symptoms and related health issues.
Cardiovascular Problems: Medications to manage high blood pressure or heart failure, and potentially surgery to correct SVAS or other defects.
Hypercalcemia: Dietary management (low-calcium diet) and/or medications if necessary.
Developmental Delays/Learning Disabilities: Special education, speech therapy, occupational therapy, and physical therapy.
Other Symptoms: Medications to treat other specific symptoms as they arise.
Is Communicable
No, Williams syndrome is not communicable. It is a genetic condition, not an infectious disease. You cannot "catch" Williams syndrome from someone who has it.
Precautions
Because Williams syndrome is a genetic condition, there are no precautions to prevent it from developing in an individual who has the genetic deletion. However, genetic counseling is helpful for families. Once a child is diagnosed, precautions involve managing the associated health issues:
Regular Medical Checkups: Monitoring heart health, calcium levels, and other potential problems.
Dietary Management: Controlling calcium intake if hypercalcemia is a concern.
Developmental Support: Providing early intervention and ongoing therapies to support development and learning.
Social Skills Training: Helping individuals with WS navigate social situations appropriately.
How long does an outbreak last?
Williams syndrome is not an infectious disease, therefore the concept of "outbreak" does not apply. The genetic condition is present from conception, though the severity and presentation of the symptoms can vary throughout the lifespan.
How is it diagnosed?
Clinical Evaluation: Based on physical features, developmental delays, and behavioral characteristics.
Genetic Testing: Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) to detect the specific deletion on chromosome 7. Genetic testing confirms the diagnosis.
Timeline of Symptoms
Infancy: Feeding difficulties, colic, hypotonia, hypercalcemia, potential heart murmurs.
Early Childhood: Developmental delays (especially speech), distinctive facial features become more apparent, overly friendly personality, anxiety.
Childhood/Adolescence: Learning disabilities, continued cardiovascular monitoring, potential for musculoskeletal problems, dental issues, short stature.
Adulthood: Ongoing monitoring for cardiovascular problems, hypertension, diabetes, and other health issues. Individuals will likely need support for independent living and employment.
Important Considerations
Cardiovascular Health: Lifelong monitoring is crucial due to the risk of SVAS and other heart conditions.
Developmental Support: Early intervention and ongoing therapies are essential to maximize potential.
Social Skills: While individuals with WS are generally friendly, they may need help understanding social cues and boundaries.
Financial Planning: Consider the long-term costs associated with managing the health and developmental needs of an individual with Williams syndrome.
Advocacy and Support: Connect with Williams syndrome support groups and organizations for information, resources, and peer support.