What is Williams Syndrome and who does it affect?
Chromosomal studies of individuals with WS show a deletion of elastin on chromosome #7. Elastin is an important part of elastic fibers found in the connective tissue of many organs. The missing elastic explains some of the characteristics of WS, such as certain facial features, hoarse voice, bladder and bowel diverticula, heart problems, and joint problems. Other characters, such as high calcium levels, M.R. and unique personality traits, remain unexplained. Facial features include a small, up-turned node, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue or green-eyed children might have a “starburst” or white, lacey pattern on their iris. Facial features are more prominent as the person ages. Diagnosis Genetic clinics around the country can order the FISH test for the elastin deletion. The test can be ordered by any primary care provider and be sent to a reliable cytogenetics lab. The order should read: FISH test for the deletion
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 (having what has been described as a “cocktail party” type personality), but lack common sense and typically have inhibited intelligence. Individuals with WS hyperfocus on the eyes of others in social engagements.[3] Phenotypically patients tend to have widely spaced teeth, a long philtrum, an
When Dianne was finally advised to take Natasha to a clinical geneticist, they suspected Williams Syndrome – a rare condition characterised by distinctive … Sources: google.
