Williams Syndrome

Description 

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.

Diagnosis

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 test.

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 girls equally.

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 most children.
• 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 relations.
• 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 motor skills. 
• 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)
• Hypothyroidism
• 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. 

Associated Behaviors

• ADHD
• Anxiety
• Feeding problems
• Overly friendly, excessively social personality