What is Williams syndrome? 

Williams syndrome (WS) is a genetic disorder caused by a deletion of a small segment of the long arm of chromosome 7. This region includes the elastin gene. It occurs in approximately 1 in 10,000 births. Williams syndrome is characterized by mild to sever medical problems, mild to moderate developmental delays, a distinctive facial appearance and a unique personality that combines over-friendliness and high levels of empathy with anxiety. Williams syndrome can affect every system in the body. Medical problems may include cardiovascular disease caused by narrowed arteries, elevated blood pressure, kidney problems, gastrointestinal issues, limited joint mobility, chronic ear infections, thyroid issues and optical issues. Attention Deficit Disorder is extremely common in Williams syndrome and often requires medication. All individuals with Williams syndrome have learning disabilities. 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. The average IQ is in the mildly mentally developmentally delayed range, however some individuals have a more severe impairment and there are few who have normal intelligence. 

How is Williams syndrome Diagnosed? 

Williams syndrome can be detected by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis. 

What Are The Most Common Characteristics of Williams syndrome? 

Many anomalies have been reported in people with Williams syndrome, but , expression of the syndrome is highly variable from person to person. Also, some anomalies are readily apparent and may be recognized at birth while others are subtle and may go unnoticed until much later. Still others  are developmental and do not exist until later on, such as learning disabilities. This explains why a diagnosis of Williams syndrome is sometimes made during the first few days of life, and other times, not until much later. Also, there is great variability in the severity with which characteristics may appear and in the degree to which they cause difficulty. 

Cardiac abnormalities: Supravalvular aortic stenosis (SVAS), Pulmonary stenosis, Long QT 
Hypertension 
Kidney abnormalities 
Hernias 
Rectal Prolapse 
Chronic Ear Infections 
Hoarse Voice 
Hypotonia 
Hypercalcemia 
Feeding difficulties in infants 
Gastric Reflux 
Gastroparesis
Celiac Disease 
Strabismus 
Urinary tract abnormalities 
Poor growth 
Early Puberty 
Hyperacusis (Hearing sensitivity) 

Individuals with Williams syndrome have a characteristic facial appearance (broad brow, bitemporal narrowness, periorbital fullness, a lacy iris pattern, strabismus, short nose, full nasal tip, malar hypoplasis, long philtrum, full lips, wide mouth, malocclusion, small jaw and prominent earlobes) that are observed at all ages. Young children have epicanthal folds, full cheeks and small, widely spaced teeth, while adults typically have a long face and neck, accentuated by sloping shoulders resulting in a more gaunt appearance. 

Delay in achieving developmental milestones 

Delay in speech and language development 

Mild to severe anxiety 

Are There Any Treatments for Williams syndrome? 

There is no cure for Williams syndrome, but there are ways to treat the various problems associated with the syndrome. There is no standard course of treatment for this very complex and uncommon disorder. Individuals with Williams syndrome require evaluation and subsequent monitoring by multiple specialists, including regular cardiovascular monitoring. Physical, Occupational and Speech/Language therapy is also recommended. Treatments are based on each individual symptom. 

Who Should I Consult if I Suspect Williams syndrome? 

Your primary care physician may order the FISH test, however, many find it more helpful to consult a clinical geneticist. He or she can perform a complete evaluation, discuss the testing and arrange for the FISH test to be conducted. 

What Are The First Steps to Take? 

The first step is to have a thorough cardiovascular evaluation. All systems in the body should be evaluated since no two individuals with Williams syndrome are alike. One of the most commonly cited pieces of advice for parents of a newly diagnosed child is to find other parents who have been through the process. Visiting a Developmental Pediatrician can also be helpful in sorting through all the different therapy options. Medical & Developmental Resources: Specific Growth Charts for individuals with Williams syndrome should be utilized by the child's physician as abnormalities in growth are a common feature in Williams syndrome.