What is Williams Syndrome?

Williams Syndrome is a multi-organ dysfunction syndrome characterized by distinctive facial features, intellectual disability, cardiovascular malformations, and developmental disorders.

• It is a rare autosomal dominant genetic disorder.
• New Zealand cardiologist Williams and German physician Beuren reported the condition in 1961 and 1962, respectively, hence the syndrome is named after them.

What Causes Williams Syndrome?

The condition is caused by a microdeletion of genes in the long arm region of chromosome 7 (an autosome).

Who is Commonly Affected by Williams Syndrome?

Newborns and infants, with an estimated incidence of 1 in 7,500 to 1 in 20,000.

What Are the Main Manifestations of Williams Syndrome?

• Distinctive Facial Features: "Elfin" facial appearance, including periorbital fullness, stellate blue sclerae, oval-shaped ears, thick lips, flat nasal bridge, long philtrum, wide mouth, and small jaw.

• Cardiovascular System: Primarily aortic stenosis and pulmonary stenosis, leading to symptoms such as palpitations, shortness of breath, poor endurance, fainting, and wheezing after exertion.

• Psychological and Behavioral Aspects: Restlessness, irritability, attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).

• Developmental Issues: Craniosynostosis, short stature, growth retardation, and mild to moderate intellectual disability.

• Other Symptoms: Infantile hypercalcemia, vision problems (esotropia, hyperopia), and sound sensitivity.

How is Williams Syndrome Diagnosed?

A preliminary diagnosis can be made based on distinctive facial features, cardiovascular symptoms, and developmental delays.

Genetic testing is the gold standard for diagnosis.

How is Williams Syndrome Treated?

Williams Syndrome is typically managed by pediatric or cardiovascular specialists.

• Medication: Used to address endocrine disorders such as hypercalcemia, hyperglycemia, or thyroid dysfunction.

• Surgery: May be considered for severe aortic stenosis, with some positive outcomes.

• Rehabilitation Therapy: Early intervention for motor and cognitive delays can help achieve basic self-care abilities.

What is the Prognosis for Williams Syndrome?

The prognosis for Williams Syndrome is generally poor, though early detection, diagnosis, and treatment can improve outcomes to some extent.

Infants or adolescents may die due to cardiovascular complications or accidents, severely impacting daily life and development.

How Can Williams Syndrome Be Prevented?

• Preconception genetic counseling and prenatal genetic testing for better reproductive planning.
• Early detection after birth and appropriate treatment can help prevent complications.
• Beyond medical treatment, attentive care and nurturing are crucial for improving prognosis.