Williams-Beuren Syndrome (WBS)

Williams-Beuren syndrome (WBS), also known as Williams syndrome, is a genetic condition characterized by pixie-like features among young children. Their distinctive facial features include having a flat nasal bridge, short upturned nose, puffiness around the eyes, long philtrum, and small chin. Adult patients have course features, full lips, wide smiles, and full nasal tips. They also have common features according to organ system: regarding their ears, nose, and throat, they may have noise sensitivity, mild to moderate hearing loss, and reoccurring otitis media. The patients often have cardiovascular conditions like hypertension, vascular stenosis, valve abnormalities, and intracardiac lesion. Rarely, affected individuals may experience a stroke or sudden death. As for endocrine system, they often experience early onset of puberty, glucose intolerance, diabetes mellitus, and osteoporosis. Regarding their gastrointestinal system, babies often have colic, texture-food intolerance, and constipation. Children and adults may experience gastroesophageal reflux, recurrent abdominal pain, diverticular disease, rectal prolapse, and celiac disease. Moreover, patients often have below-average IQ, vision problems, friendly personality, attention-deficit hyperactivity disorder, anxious traits, and premature hair graying.

This syndrome is caused by the spontaneous deletion of genetic material (26 to 28 genes) in chromosome number seven. A person with WBS has a 50% chance of passing the condition to his or her offspring. Williams and Beuren independently published papers describing the syndrome in 1961.