Understanding Williams Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Creator: Doctronic
Published: 2023-10-03

Medically reviewed by Oghenefejiro Okifo | MD, Harvard Medical School | Henry Ford Hospital - Detroit, MI on October 3rd, 2023.

Key Takeaways

The deletion of 25-27 genes on chromosome 7q11.23 occurs spontaneously in 1 in 7,500-10,000 births, with only 1-2% of cases being inherited from an affected parent.
Supravalvular aortic stenosis affects 75% of patients and requires lifelong cardiac monitoring, as narrowed arteries can lead to sudden cardiac death if untreated.
Characteristic facial features become more pronounced with age, including a broad forehead, short nose, wide mouth, and stellate iris patterns visible during eye exams.
Hypercalcemia occurs in 15% of infants, requiring calcium and vitamin D restrictions throughout life to prevent kidney stones and cardiovascular complications.
Most individuals have mild to moderate intellectual disability with IQs ranging from 50-70, but often display exceptional musical abilities and highly social, friendly personalities.

Williams syndrome is a rare genetic disorder that affects various parts of the body and causes learning difficulties. Children with this condition may have unique facial features, heart and blood vessel problems, and other health issues. Despite the challenges, with proper treatment and support, individuals with Williams syndrome can lead healthy and fulfilling lives.

Causes of Williams Syndrome

Williams syndrome is caused by the absence of certain genes. The specific symptoms a child experiences depend on the missing genes. For example, the absence of the ELN gene leads to heart and blood vessel problems. In most cases, the genetic deletion occurs randomly in the sperm or egg before conception. Rarely, a child may inherit the condition from a parent who also has Williams syndrome.

Symptoms of Williams Syndrome

Williams syndrome can cause a wide range of symptoms affecting different parts of the body:

Facial Features

Children with Williams syndrome often have distinct facial features, including:

Wide forehead
Flattened bridge of the nose
Short nose with a large tip
Wide mouth with full lips
Small chin
Widely spaced teeth
Uneven eyes
White starburst pattern around the iris

Heart and Blood Vessel Problems

Many individuals with Williams syndrome have heart and blood vessel issues, such as narrowed arteries and high blood pressure. These problems can lead to decreased blood flow and oxygen supply to the body, potentially damaging the heart.

Growth and Development

Babies with Williams syndrome may be small at birth and have difficulty gaining weight. They may also experience delayed development in walking, talking, and acquiring new skills compared to their peers. As adults, they are often shorter than average.

Understanding Williams Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Learning Difficulties

Learning problems are common in children with Williams syndrome, ranging from mild to severe. They may have a learning disorder like attention-deficit hyperactivity disorder (ADHD). However, many children with this condition have excellent memory skills, speak and read well, and possess musical talent.

Diagnosing Williams Syndrome

Doctors usually diagnose Williams syndrome before a child reaches 4 years of age. The diagnostic process may include:

Physical examination
Family medical history review
Assessment of facial features
Electrocardiogram (EKG) or ultrasound to check for heart problems
Bladder and kidney ultrasound to check for urinary tract issues
Fluorescence in situ hybridization (FISH) blood test to detect missing genes

Treating Williams Syndrome

Treatment for Williams syndrome involves a multidisciplinary approach, with various healthcare professionals working together to address the child's needs. The treatment plan may include:

A low-calcium and low-vitamin D diet to manage high blood calcium levels
Medication to control blood pressure
Special education, including speech and language therapy
Physical therapy
Surgery to correct blood vessel or heart problems

Every child with Williams syndrome is unique, and some may require lifelong medical care, while others can lead relatively normal lives with appropriate support.

Resources for Families

Families affected by Williams syndrome can benefit from seeking support and information from organizations specializing in rare disorders. Genetic counseling can also help families understand their risk for having a child with this condition.

For more information on Williams syndrome, visit:

The Bottom Line

Early cardiac evaluation is critical since heart defects are the most life-threatening complication, while developmental interventions can help individuals reach their potential despite intellectual challenges. Families need genetic counseling since there's a 50% chance of passing the condition to children if a parent is affected. If you notice distinctive facial features combined with heart problems or developmental delays, Doctronic can help connect you with appropriate specialists for evaluation.