What is Williams Syndrome?
Williams syndrome (WS) is a rare genetic disorder that occurs in about 1 in 8,000 births. It is associated with developmental delays and medical problems affecting multiple parts of the body. Features of Williams syndrome include:
Characteristic facial features that have been described as pixie-like
- Fullness to the skin around the eyes
- A starburst pattern in the colored part of the eye
- An upturned nose
- Prominent lips and a wide mouth
- Irritability in infancy and prolonged colic
- Difficulty with transitions from bottle feeding to solids
- Difficulty gaining weight in infancy followed by obesity in young adults
- Average IQ is 55 but varies widely
- Delayed speech that later turns into a relative strength
- Difficulty with spatial processing, numbers and abstract reasoning
Characteristic personality features
- Social, friendly and endearing with minimal stranger anxiety
- Enjoyment and appreciation of music
- Heightened anxiety and sometimes specific fears or phobias
- Dislike of loud noises
Blood vessel problems
- Blood vessel narrowing, often called stenosis
- Blood vessel stiffness
- Hypertension, even in childhood
Problems with hormones
- Thyroid problems
- High calcium in the blood
Other there are other health concerns such as:
- Eye crossing
- Difficulty with potty training, increased frequency with which the child needs to go or urgency leading to accidents or the feeling of pain with urination
- Hernias and other problems of connective tissue such as loose or tight joints or scoliosis
What causes Williams Syndrome?
Williams syndrome is caused by 26-28 missing genes in a small region on one of the child’s chromosomes. In most cases, the child with Williams syndrome is the first person in the family to have these medical concerns. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.
Scientists have learned about how several of the genes missing in Williams syndrome cause the medical concerns associated with this condition. For example, the elastin gene, causes the blood vessel problems associated with the condition. Other genes are reported to cause the characteristic personality and facial appearance in Williams syndrome.
I think my child has Williams syndrome. What can I do to find out?
Your child should be evaluated by a team of physicians experienced in the diagnosis and care of children and adults with Williams syndrome.
Evaluating for Williams syndrome, may involve:
- a physical exam looking closely for features of the condition
- a through investigation of the child’s blood vessels, often with an echocardiogram and an EKG.
- A DNA test to check for the missing genes. Two different types of testing are available for WS. Both tests involve analysis of a small amount of blood from your child.
- A FISH test is one of the quickest ways to diagnose the condition. It uses a fluorescent marker to determine if the genes critical to WS are present or not.
- A chromosomal microarray uses millions of markers to determine if there are missing pieces or extra pieces of DNA anywhere in the person’s chromosomes. This test is slower but gives more information about how big the missing piece is that may affect how severe the child’s condition will be.
How is Williams Syndrome treated?
While there is no “cure” for Williams syndrome, many families benefit from a team approach where multiple doctors experienced in Williams syndrome work together to maximize a child’s health and development. Evaluations you might expect if your child has Williams syndrome include the following:
- Questions about their health, personal growth, development, and socialization.
- A physical exam looking for features of the condition
- Examination of the heart by echocardiogram and EKG
- Ultrasound of the kidneys looking for abnormal appearance or calcium deposits
- Tests of your child’s hormones (usually blood and urine tests)
Based on the findings from these tests, your child may be referred for additional investigation with another doctor or therapist. Health care specialists that commonly care for individuals with Williams syndrome include Geneticists, Cardiologists, Endocrinologists, Nephrologists, Ophthalmologists, ENTs, Orthopedic Surgeons, and Urologists. In addition, individuals with Williams syndrome often benefit from the involvement of specialized therapy services.