Williams Syndrome Clinic
The Williams Syndrome Clinic at Children’s Hospital of Philadelphia (CHOP) provides families who have a child with Williams syndrome with one place where they can consult with all the specialists their child needs in one day. After the visit, each child receives a personalized care plan tailored to their unique needs, with the goal of helping each child reach their fullest potential.
CHOP’s multispecialty clinic is one of the largest in the world dedicated to:
- providing critical services to children and teens with Williams syndrome,
- meeting their care needs as they transition from childhood to adulthood, and
- advancing genetic research about the disorder.
CHOP’s Williams Syndrome Clinic partners with the Armellino Center of Excellence for Williams Syndrome at Penn Medicine, which recently established a groundbreaking hub for clinical care for individuals with Williams syndrome throughout their lifespan. Together, CHOP and UPenn are collaborating to improve the quality of care and long-term outcomes for children and adults with Williams syndrome.
What is Williams syndrome?
Williams syndrome (WS) is a rare genetic disorder caused by deletions on chromosome 7q11 and affects 1 in every 10,000 births in the United States. Children with Williams syndrome generally have unusual social abilities, mild to moderate intellectual disability and learning disabilities, anxiety and excessive phobias, executive function challenges, as well as a predisposition for cardiovascular and metabolic disease, and a variety of other medical conditions.
Children with Williams syndrome often have unique facial features, including large ears, full cheeks, a small jaw and teeth, a wide mouth and an upturned nose. They are often extremely outgoing, friendly and empathetic – sometimes to a detriment as they often have difficulty identifying strangers or sensing dangerous situations.
For most children with Williams syndrome, there is no previous family history of the disease. Instead, it is caused by a random chromosome change, not inherited from a parent.
About the Williams Syndrome Clinic
The Williams Syndrome Clinic at CHOP is a comprehensive program designed to meet the needs of pediatric patients with Williams syndrome and to partner with adult clinicians to provide care into adulthood. The new collaborative program with Penn Medicine is meant to enhance clinical and social services to patients, while also advancing scientific discovery about Williams syndrome in all areas – psychological to physiological, genetic to metabolic, social to clinical complexity.
Conditions We Treat
Williams syndrome
Our Team
What makes our Williams Syndrome Clinic unique is the multidisciplinary team that brings their specific expertise to each child. Our clinic is led by Sanmati Cuddapah, MD, a physician with special expertise in Williams syndrome, and includes a genetics counselor, nurse, research coordinator and administrator. Other specialists are consulted as needed.
What to expect
Once you have scheduled an appointment with the Williams Syndrome Clinic, you will receive an intake packet and a request for your child’s medical records, pictures and other information. After reviewing the records, our team will work with your family to determine which specialists are appropriate to see your child.
During your clinic visit, you will stay in one exam room while the various specialists rotate in to evaluate your child and talk with you. You’ll leave the clinic with a comprehensive, coordinated care plan that optimizes your child’s development and quality of life.
Your child’s evaluation and care plan will be shared with your family’s primary care physician and any other clinicians your child sees.
New patients and follow up appointments
To schedule a new patient or follow-up appointment, call 215-590-2920 or contact us online.