Williams syndrome is a rare genetic disorder that causes a variety of symptoms and learning issues. Children with this syndrome could have problems with their heart, blood vessels, kidneys, and other organs. Their nose, mouth, and other facial features may be unique. They sometimes have trouble learning.
Children with Williams syndrome will need to see many doctors throughout their lives. But with the right treatment, they can stay healthy and do well in school.
Causes
Babies with Williams syndrome are born without certain genes. The symptoms they have depend on the genes they're missing. For example, someone born without a gene called ELN will have heart and blood vessel problems.
The genes are usually missing in the sperm or egg before they meet up to form the baby. In a small number of cases, babies inherit the genetic deletion from a parent with the condition, but it is usually a random 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 with Williams syndrome have problems with their heart and blood vessels.
- The aorta, the main artery that carries blood from the heart to the rest of the body, may be narrowed.
- The pulmonary arteries that carry blood from the heart to the lungs also may be narrowed.
- High blood pressure is common.
Narrowed arteries don't let as much oxygen-rich blood reach the heart and body. High blood pressure and decreased blood flow can damage the heart.
Growth Problems
Babies born with Williams syndrome can be very small. They may have trouble eating, and might not gain weight or grow as quickly as other children.
As adults, they are often shorter than most people.
Personality
Children with Williams syndrome may 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 to walk, talk, and gain new skills compared to other children their age. They may have a learning disorder such as attention-deficit hyperactivity disorder (ADHD).
On the other hand, lots of children with Williams syndrome have very good memories and learn new things quickly. They tend to speak and read well, and often have musical talent.
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 a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.
A bladder and kidney ultrasound can check for urinary tract conditions.
Your child might get a blood test called FISH, or fluorescence in situ hybridization, to see if any genes are missing. Most people with Williams syndrome will not have the ELN gene.
Because these issues can develop over time, doctors will want to see your child regularly.
Treatment
Many different caregivers can be involved in taking care of your child, including a:
- 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.
Living with Williams Syndrome
A genetic counselor can help you learn your family's risk for Williams syndrome. This can be helpful if you plan to have children.
Williams syndrome can't be cured, but treatments can help with symptoms and learning problems.
Every child with Williams syndrome is different. Some can lead a very normal life. Others have more serious health and learning problems. They may need lifelong medical care.
Resources
To learn more about Williams syndrome, get help from an organization that specializes in rare disorders.