Williams syndrome


Williams syndrome, also called Williams-Beuren syndrome, is a genetic disorder that typically causes mild to moderate intellectual or learning disabilities, distinctive facial features, and unique personality characteristics that include overfriendliness, anxiety, and high levels of empathy. Infants with Williams syndrome often have high levels of calcium in their blood (called hypercalcemia).
The most significant medical problem associated with Williams syndrome is a form of heart disease called supravalvar aortic stenosis (SVAS), in which the main blood vessel of the heart (the aorta) is too narrow.
Researchers estimate that one out of 7,500 to 20,000 people is born with Williams syndrome worldwide.
The prognosis for patients with Williams syndrome varies depending on the severity of the person's intellectual disabilities and heart problems. With early diagnosis and prompt therapy, some patients are able to live independently once they become adults, while others may need lifelong support. There are many ways for patients to cope with their disabilities. Special education and occupational therapy has been shown to improve patients' work and school performance.

Related Terms

ADHD, attention deficit hyperactivity disorder, autosomal dominant disorder, autosomal dominant trait, Beuren syndrome, chromosomal deletion, chromosome 7, CLIP2 gene, early hypercalcemia syndrome, elastin, elfin facies syndrome, elfin facies with hypercalcemia, ELN gene, FISH, fluorescent in situ hybridization, general transcription factor II I gene, GTF2I gene, GTF2I repeat domain containing 1 gene, GTF2IRD1 gene, hypercalcemia, hypertension, infantile hypercalcemia, intellectual disabilities, learning disabilities, LIM domain kinase 1 gene, LIMK1 gene, NCF1 gene, neutrophil cytosolic factor 1 gene, supravalvar aortic stenosis, SVAS, WBS, Williams-Beuren syndrome, William's syndrome, WMS.