Diagnosis

Anytime you visit either a WS Clinic or your local physicians please tell them about the new ICD-10 diagnostic code for Williams syndrome, and ask them to put it in their records of use on all procedure reports.  ICD-10 codes are used primarily by insurance providers but they are also extremely important to the research community.  Your physicians use of the ICD-10 code specific to Williams syndrome can truly make a difference for future research on Williams syndrome.

EXTERNAL WEBSITE

Funded by the NIH, HRSA, and DOE, GeneTests-GeneClinics is a medical genetics information resource developed for physicians, healthcare providers, and researchers. You will find information specific to Williams syndrome here.

PDF containing typical physical, medical, neuropsychological, and behavioral characteristics of Williams syndrome. Updated 2020.

The size of the deletion plays a role in the symptoms of WS. Individuals who have a deletion of 28 instead of 26 genes are less likely to have hypertension. Deletions longer than 28 genes are associated with more severe intellectual disability, and seizures (infantile spasms). Deletions shorter than 26 genes are associated with fewer symptoms which vary depending on what genes are deleted.

Jessica L. Waxler, Elizabeth M. Cherniske, Kristen Dieter, Pamela Herd, and Barbara R. Pober. 2012

Barbara R. Pober, M.D. 2010

Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes.