Williams syndrome, also known as Williams-Beuren syndrome, is a rare, neurodevelopmental, genetic condition characterized by many symptoms including unique physical features, delayed development, cognitive challenges and cardiovascular abnormalities.

Williams syndrome is a microdeletion syndrome caused by the spontaneous deletion of genetic material from the chromosomal region 7q11.23. This is a heterozygous deletion, which results in haploinsufficient expression of the 25–27 genes in this region.

Sep 22, 2024 · Williams syndrome is a rare genetic disorder caused by a missing section of a chromosome. It causes unique facial features, physical symptoms, cognitive delays, and learning...

Apr 9, 1999 · Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities ...

Jun 26, 2023 · Williams syndrome is a rare genetic disorder with congenital heart disease, distinctive facial features (elfin-like faces), hypercalcemia, neurodevelopmental, and behavioral deficits.

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

Jul 9, 2017 · Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. It causes many developmental problems. These can include heart and blood vessel issues...

Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems.

Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges.

Williams syndrome occurs when a child has a small deletion or missing piece of one of their chromosomes, called chromosome 7. A genetic test report may refer to this genetic change as a 7q11.23 microdeletion.