Williams syndrome is genetic condition in which there is a small deletion of material
on chromosome 7 (7q11.23 microdeletion). It is present at birth and causes problems
with the way the body and brain develop.
Causes of Williams Syndrome
Williams Syndrome is caused by a change in a certain area of chromosome 7.
A doctor may suspect Williams syndrome based upon a baby having certain medical
problems combined with certain facial features. Diagnosis is confirmed by a blood
The facial features often seen in children with Williams syndrome include fullness
around the eyes, small upturned nose, long philtrum (space between nose and upper
lip), wide mouth, full lips, and somewhat small jaw. Older children and adults often
have a long narrow face and a long neck. Blue and green-eyed children may have a
prominent “starburst” pattern to their irises.
How Many People Have Williams Syndrome?
Williams syndrome affects 1 in every 10,000 people world wide. It affects boys and
Associated Developmental and Learning Issues
- Adaptive Skills: Many children with Williams syndrome learn skills like feeding
him/herself, toileting, and dressing more slowly than other children. These are very
important skills, however, and with family teaching and support can be learned by
- Communication difficulties: Most children with Williams syndrome develop speech skills
later than other children their age. With intervention, most children develop the
ability to communicate wants and needs effectively. In fact, for many children with
Williams syndrome, expressive language may be a relative strength.
- Learning: Most children with Williams syndrome usually have mild to moderate intellectual
disabilities. This means they learn all skills at a slower pace than other children.
They often have a certain pattern of learning strengths and weaknesses. Strengths
in speech, long term memory, and social skills. Weaknesses in fine motor and spatial
- Movement/mobility difficulties: Most children with Williams syndrome have low muscle
tone and trouble with coordination and strength. Young children may be slow in developing
- Social skills: Although children with Williams syndrome are known to be quite social,
they may learn to play and interact with other children more slowly than other children.
They are often more interested in adults, and may struggle with attention to social
cues with peers. With time and support, however, most children develop good play
and friendship skills.
Associated Medical Conditions
Many children with Williams syndrome have other health complications. It is important
that these are recognized and treated. A child with Williams syndrome who is physically
healthy is more likely to do well in school and in other treatments. This contributes
to more independence, better daily functioning, and better quality of life.
Because of this, it is important for a child’s primary care provider to know about
Williams syndrome and how to look for common problems. Guidance for primary care
providers is available through the American Academy of Pediatrics, titled Health Care Supervision for Children With Williams Syndrome.
The Williams Syndrome Association also has special growth charts for children with
Williams syndrome as well as guidelines for administering anesthesia and for health
transition to adulthood in their medical resources.
- Bowel and bladder problems
- Chiari I malformation
- Chronic ear infections
- Dental problems
- Feeding problems
- GI problems (GE reflux, constipation)
- Heart defects (mostly narrowing of the aorta or pulmonary arteries )
- High blood pressure
- High calcium levels in infancy (can contribute to irritability, vomiting, constipation,
and muscle cramps)
- Irritability (colic during infancy)
- Kidney abnormalities
- Muscle and bone problems (Joint contractures, joint laxity, scoliosis)
- Problems with calcium and vitamin D metabolism
- Slow growth before and after birth
- Vision problems (strabismus, hyperopia)
Williams syndrome itself does not get worse over time. However, how it affects a
person may be different at different points in the person’s life.
- Feeding problems
- Overly friendly, excessively social personality
- Child Neurology - Assures children have the evaluation and treatment they need for seizures or other neurologic issues.
- Dental Department - Helps children maintain good oral health.
- Pediatric Cardiology - Monitors heart status in children with heart problems.
- Pediatric Gastroenterology - Evaluates and offers suggestions for treatment for problems with slow bowel motility, constipation, or gastroesophageal reflux (GER).
- Pediatric Orthopaedics - Monitors and treats bone and muscle issues.
- Pediatric Sleep Medicine Service - Evaluates and treats sleep problems.
- Physical Medicine and Rehabilitation - Provides outpatient evaluation and intense and targeted therapy programs for children and teens. Pediatric physical therapists provide evaluation and treatment of independent daily living skills and equipment needs. Pediatric occupational therapists provide evaluation and treatment of fine motor skills, handwriting, daily living skills, sensory processing, and adaptive equipment needs.
- Speech Pathology Department - Meets the needs of children who have difficulties with speech, communication, oral-motor control, and feeding/swallowing.
You can find resources for Williams syndrome in our Resource Directory!