Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Williams syndrome (WS; also Williams-Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7.[1] It is characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand. [2]
Individuals with Williams syndrome are highly verbal and sociable, but lack common sense and typically have inhibited intelligence. Individuals with WS hyper-focus on the eyes of others in social engagements.[3] Phenotypically patients tend to have widely spaced teeth, a long philtrum, and flattened nasal bridge. [4]
People with Williams syndrome often have hyperacusis and phonophobia which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve.[5][6] Cases of Absolute pitch appear to be significantly higher amongst those with the condition.[7] They also tend to demonstrate a love of music, in keeping with reports of perfect pitch.[4]
There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams,[8] Individuals with Williams syndrome also report higher anxiety levels as well as phobia development, which may be associated with hyperacusis.[9]
Individuals with Williams syndrome have problems with visual processing, but this is related to difficulty in dealing with complex spatial relationships rather than to issues with depth perception.[10]
No curative therapy is known for Williams syndrome exists with care being mostly supportive.[4] Guidelines published by the American Academy of Pediatrics include cardiology evaluations, developmental and psychoeducational assessment, and many other examination, laboratory, and anticipatory guidance recommendations.[11]
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