Williams syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder and is present at birth. This region includes the elastin gene and affects approximately 1 in 10,000 births. It affects males and females equally. Williams syndrome is characterized by a wide range of medical problems with the most significant being cardiovascular disease. Medical problems can include hypercalcemia, which is many times present at birth, narrowed arteries causing high blood pressure, kidney problems, chronic ear infections, gastrointestinal issues, thickened organs, optical issues, hernias, rectal prolapse, and urinary tract issues.
Individuals with Williams syndrome also have a developmental delays ranging from mild to severe. Delays are typically global and most children are quite delayed in meeting milestones such as crawling, walking, talking and many children have significant feeding difficulties. Williams syndrome is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. Mild to severe anxiety and Attention Deficit Disorder are also common features of Williams syndrome. No two individuals with Williams syndrome are alike and the degree of severity in characteristics are variable from person to person. It is important to also remember that not all medical problems are present at birth and many occur over time and some may not be realized until adulthood.
Diagnosing Williams Syndrome
Williams syndrome can be confirmed by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.
Individuals with Williams syndrome also have a characteristic facial appearance. The characteristic facial features include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. Individuals with Williams syndrome are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals also have a star-like pattern in the iris of their eyes.
Course of Treatment
Williams syndrome cannot be cured and there is no standard course of treatment. Each medical and developmental issue should be addressed by a specialist. Physical, occupational and speech/language therapy is typically recommended. Cardiovascular monitoring should occur on an ongoing basis as well as an annual evaluation and monitoring of all body systems.
Considerations for Adults with Williams Syndrome
individuals enter into adulthood, many additional issues may arise. Some of the more common issues are diabetes or pre-diabetes
and mild to moderate sensorineural hearing loss (a form of deafness due
to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood.
Problems with diverticulitis and hypothyroidismare
often seen in adults and they also have a higher tendency to be
overweight. Many individuals appear to be older than they are and
premature greying of hair is common. Cognitive aging also tends to be
present. Malocclusion of teeth is most often present along with chronic
build up of wax in the ears.
It is important that in addition to monitoring existing conditions from
childhood, as an individual enters into adulthood, physicians also
review all systems to look for subsequent medical issues that commonly
A higher incidence of depression also occurs as individuals enter adulthood along with anxiety and phobias and obsessions.
There is currently no documentation of typical life expectancy of
individuals with Williams syndrome. All medical issues should be closely
monitored throughout the life cycle.