What is Williams syndrome?

Williams syndrome is a rare genetic disorder that causes various symptoms and learning problems. Children with this syndrome may have problems with the heart, blood vessels, kidneys and other organs. Their nose, mouth, and other facial features may be unique. Sometimes they find it hard to learn.

Children with Williams syndrome will have to visit many doctors throughout their lives. But with the right treatment, they can stay healthy and do well in school.

Causes

Children with Williams syndrome are born without certain genes. The symptoms they show depend on which genes they are missing. For example, a person born without the ELN gene will have problems with the heart and blood vessels.

The genes are usually missing from the sperm or egg before they combine to form a child. In a small number of cases, children inherit a genetic deletion from a parent with the disease, but it is usually an accidental disorder in the genes.

Symptoms

Williams syndrome can cause symptoms in different parts of the body such as the face, heart, and other organs. It can also affect a child's ability to learn.

Facial features

Children with Williams syndrome have unique facial features that may include:

Wide forehead
Bridge of the nose is flattened
Short nose with a large tip
Wide mouth with full lips
Small chin
Small, widely spaced teeth
Missing or crooked teeth
Uneven eyes
Folds over the corners of the eyes
White starburst pattern around the iris, or colored part of the eye
Long face and neck (in adulthood)

Heart and blood vessels

Many people with Williams syndrome have heart and blood vessel problems.

The aorta, the main artery that carries blood from the heart to the rest of the body, may be narrowed.
The pulmonary arteries, which carry blood from the heart to the lungs, may also be narrowed.
High blood pressure is common.

Narrowed arteries prevent much oxygen-rich blood from reaching the heart and body. High blood pressure and reduced blood flow can damage the heart.

Growth problems

Children born with Williams syndrome can be very small. They may have difficulty eating, may not gain weight, or may not grow as fast as other children.

As adults, they are often smaller than most people.

Personality

Children with Williams syndrome can be anxious, but they also tend to be very friendly and outgoing.

Learning problems

Learning problems are common in children with Williams syndrome. They range from mild to severe. Children are slower in walking, talking and learning new skills than other children their age. They may have a learning disability such as Attention Deficit Hyperactivity Disorder.

On the other hand, many children with Williams syndrome have very good memories and learn new things quickly. They tend to speak well and read well, and often have musical ability.

Other possible symptoms

Curved spine, called scoliosis
Ear infections
Early puberty
Farsightedness
Hernia
High levels of calcium in the blood
Hoarse voice
Joint and bone problems
Kidney problems
Urinary tract infections

Diagnosis

Williams syndrome is usually diagnosed before the age of 4 years. Your doctor will examine you and ask you questions about your family medical history. The doctor will then look for facial features such as an upturned nose, wide forehead, and small teeth. An ECG or ultrasound can reveal heart problems.

Ultrasound of the bladder and kidneys can reveal diseases of the urinary tract.

Your child may have a blood test or fluorescent in situ hybridization to determine if any genes are missing. Most people with Williams syndrome do not have the ELN gene.

Because these problems can develop over time, doctors will want to monitor your child regularly.

Treatment

Many caregivers can be involved in caring for a child, including:

Cardiologist -- a doctor who treats heart problems
Endocrinologist -- a doctor who treats hormone problems
Gastroenterologist -- a doctor who treats gastrointestinal problems
Ophthalmologist -- a doctor who treats eye problems
Psychologist
Speech and language therapist
Occupational therapist
Physical therapist

Some of the treatments your child might need:

A diet low in calcium and vitamin D to bring down high calcium levels in the blood
Medicine to lower blood pressure
Special education, including speech and language therapy
Physical therapy
Surgery to fix a blood vessel or heart problem

Your child might need treatments for other symptoms, too.

Your child may also need treatment for other symptoms.

Living with Williams Syndrome

A genetic counselor can help you determine the risk of developing Williams syndrome in your family. This may be helpful if you are planning to have children.

Williams syndrome cannot be cured, but treatment can help relieve symptoms and learning problems.

All children with Williams syndrome are different. Some may lead quite normal lives. Others have more serious health and learning problems. They may require lifelong medical care.