Diseases

Williams – Beuren Syndrome

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Williams–beuren syndrome (wbs; mim 194050) is a rare developmental disorder (1/20 000–1/50 000 live births) which usually occurs sporadically and has striking physical and behavioural features (1). WBS individuals Have mild mental retardation, however, this camouflages an uneven cognitive profile.

SYMPTOMS

Specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips.
Colic or feeding problems.
Attention deficit hyperactivity disorder (adhd)
Learning disorders.
Inward bend of pinky finger.
Specific phobias.
Short stature.
Speech delays.

CAUSES

Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s.