Williams syndrome (WS) is a rare genetic condition affecting growth, physical health, and learning abilities. A deletion of around 25 genes on chromosome seven causes WS. This deletion occurs randomly before birth, in around 1/10,000 people. WS affects both males and females, in every culture across the globe.
People with WS may have some common facial features, slow growth, and multiple medical problems. These individuals experience developmental delays, and mild to moderate intellectual disabilities. At the same time, they often have strong verbal abilities, social personalities, and a high affinity for music. Children with WS need ongoing learning assistance physical therapies. As adults, many live in assistive housing, and volunteer or work with extra supervision.
Our program offers integrated care to individuals with Williams syndrome and their families, by addressing medical needs, developmental concerns and social implications, using a multidisciplinary team approach. Common concerns for people with Williams Syndrome include:
- Cardiovascular disease, particularly supravalvular aortic stenosis and peripheral pulmonic stenosis
- Hypertension (high blood pressure)
- Feeding and growth
- Hypercalcemia (high calcium levels)
- Hypothyroidism of subclinical hypothyroidism (low thyroid-related hormones)
- Developmental delay
- School placement
We coordinate specialty medical, surgical and developmental care as a complement to an individual’s primary care. The Williams Syndrome Program at CHAM is:
- One of only 10 centers nationally recognized by the Williams Syndrome Association for multidisciplinary care.
- Available on the first Friday of each month our specialists work together to see children and adults with Williams syndrome.
- Interdisciplinary, with visits supplemented by social services, music and other therapy.
- Able to coordinate laboratory testing and ultrasound on clinic day as needed.
In addition, our specialists regularly collaborate to meet the needs of our patients. We work closely with:
Medical Geneticists
Our geneticists understand the unique challenges that affect people with Williams syndrome (WS), a genetic deletion disorder. Ongoing research at Montefiore Medical Center and Albert Einstein College of Medicine is determining why people with identical deletions have varying symptoms.
Cardiologists
The cardiology team at CHAM has a history of innovative care in both medical and surgical intervention ad use of state-ofthe- art diagnostic tools, such as electrocardiograms, echocardiography, MRI, CT scan imaging, Holter monitoring and cardiac catheterization, are also available at CHAM, as is cardiovascular surgery.
Endocrinologists
CHAM’s Division of Endocrinology works to prevent and treat hormonal disturbances, such as thyroid disease or calcium imbalance. In older children, they watch for hormonal indications of conditions such as early puberty or diabetes mellitus.
Gastroenterologists
CHAM’s gastrointestinal (GI) physicians are specialists in feeding, food absorption and growth, and they can help your child with reflux, colic or lack of weight gain. Their awareness of growth patterns typical in Williams syndrome can prevent unnecessary interventions.
Nephrologists
Our Nephrology team cares for children with high blood pressure or unusual arrangements of the kidneys or ureters. CHAM’s nephrology department is rated #1 in the New York metro area by U.S. News & World Report.
Developmentalists
Developmental pediatricians at CHAM focus on the trajectory of growth, motor skills and behavioral development, providing whole person management of children with developmental disabilities. They perform family-based assessments to pinpoint a child’s strengths and weaknesses, and partner with the family to develop an appropriate care plan.
Social workers
This team helps guide families to educational, community and financial resources that will support them in fulfilling their child’s potential.
Music therapists
CHAM offers music therapy as well. Members of this highly-trained team join every clinic, offering calmness, fun or diversion as needed, plus a setting for families to interact.
Other participating departments include:
- Neurology
- Nutrition
- Ophthalmology
- Otorhinolaryngology (ENT)
- Physical therapy
- Physiatry
We invite you to give us a call to learn more about our team and the services provided by the Williams Syndrome Program at CHAM.