Introduction

The program’s multidisciplinary team assists with the medical, developmental, educational, and emotional needs of individuals with Williams Syndrome and their families. Usually scheduled for a consecutive 3-period, participants meet with up to 10 sub-specialists with specific experience and expertise with Williams syndrome.

Complete Medical Evaluation

Within the Williams Syndrome program at Children’s Hospital, the cardiologists also function as Primary Care Providers. They establish a diagnosis using clinical and genetic (chromosome analysis and FISH) measurements, and provide a comprehensive medical assessment. This assessment includes an overall physical exam, evaluation of musculoskeletal and neurologic (joint limitation, muscle tone, spasticity, hyperactive reflexes, kyphosis, lordosis, scoliosis), genitourinary system functioning (ordering bladder and renal ultrasounds, renal function studies, and urinalysis), check for inguinal hernia growth parameters, calcium levels and calcium-creatinine ratios, and thyroid function. If problems with visual acuity (hyperopia) or functioning (strabismus) are noted, a referral to an ophthalmologist is made.  Your medical evaluation will be performed by one or both of the following providers: a cardiologist, geneticist/genetic counselor, and/or an audiologist.

Developmental Evaluations

In Progress

Specialty Evaluations

In Progress

Therapeutic Evaluations

In Progress

Optional Specialists

In Progress