Williams Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Williams Syndrome?
A clinical geneticist often helps lead care for Williams syndrome. This is a doctor who treats inherited conditions. A pediatric cardiologist, a children's heart doctor, treats the heart and blood vessel problems. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Williams syndrome?
Williams syndrome is a developmental disorder that affects many parts of the body. It is also called Williams-Beuren syndrome. It usually causes mild to moderate learning problems. It also causes distinctive facial features and heart and blood vessel problems. People with Williams syndrome tend to have outgoing, engaging personalities and a strong interest in other people. Williams syndrome affects an estimated 1 in 7,500 to 18,000 people.
Symptoms
Many signs of Williams syndrome may not be obvious at birth. Signs can include:
- Facial features: young children often have a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin.
- Heart: supravalvular aortic stenosis is a narrowing of the aorta. The aorta is the large blood vessel that carries blood from the heart to the rest of the body. It occurs frequently in people with Williams syndrome. If it is not treated, it can lead to shortness of breath and heart failure.
- Calcium: infants may have high blood calcium, called hypercalcemia.
- Learning: people often have trouble with tasks like drawing and assembling puzzles. They tend to do well with spoken language and music.
- Behavior: attention deficit disorder (ADD), anxiety, and phobias are common. A phobia is a strong fear.
- Feeding: babies may have colic, reflux, and vomiting.
Anesthesia is the medicine used to put a person to sleep for surgery. It has a higher risk of problems.
Causes and who gets it
Williams syndrome comes from missing genetic material in one region of chromosome 7. The missing region includes 25 to 27 genes. One missing gene makes elastin, a protein that lets blood vessels and other tissues stretch.
Most cases of Williams syndrome are not inherited. The change usually happens as a random event when a parent's egg or sperm cells form. In a small percentage of cases, a person inherits the deletion from a parent who has the condition. Once someone carries the genetic change, their children have a 50% chance of inheriting it.
How doctors diagnose it
Doctors may confirm it with a full exam, a detailed history, and blood tests. Genetic testing can look for the missing piece of chromosome 7. This is a blood test called a FISH test or a microarray. Other tests include:
- A blood pressure check.
- Urine and blood tests for calcium level.
- An echocardiogram combined with Doppler ultrasound, which are ultrasound tests of the heart.
- A kidney ultrasound.
Exams may find farsightedness. Exams may also find an unusual star-like pattern in the iris, the colored part of the eye.
Treatment
There is no cure for Williams syndrome. Doctors say to avoid extra calcium and vitamin D. High blood calcium is treated if it occurs. Blood vessel narrowing can be a major health problem, and treatment is based on how severe it is. Some children with severe heart defects may need surgery to fix the defect.
Physical therapy is helpful for people with joint stiffness. Developmental and speech therapy can also help. Special education in school may help children reach their potential. Children should also see an endocrinologist, a hormone doctor. A geneticist who knows Williams syndrome well can help coordinate treatment. Genetic counseling may help people with Williams syndrome and their families.
When to see a doctor
Contact your child's doctor if your child has features similar to those of Williams syndrome. Seek genetic counseling if you have a family history of Williams syndrome.
Call 911 or go to the emergency room for chest pain lasting two minutes or more, fainting, trouble breathing, or a seizure.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can review test results and help coordinate care between specialists and therapists.
Common questions
Is Williams syndrome inherited?
Most often, no. Most cases of Williams syndrome are not inherited. In a small percentage of cases, a person inherits the deletion from a parent who has the condition.
Can Williams syndrome be cured?
No, there is no cure for Williams syndrome. Other treatments are based on the person's symptoms.
Do people with Williams syndrome have heart problems?
Often, yes. A narrowing of the aorta, called supravalvular aortic stenosis, often occurs in Williams syndrome. Another heart defect is pulmonary artery stenosis, a narrowed artery to the lungs.
Can Williams syndrome be prevented?
No, there is no known way to prevent the genetic problem that causes Williams syndrome. Testing before birth is available for couples with a family history of it.
Sources
- MedlinePlus Genetics - Williams syndrome
- MedlinePlus - Williams syndrome
- National Organization for Rare Disorders (NORD) - Williams Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
