Syndrome de Williams syndrome de Williams-Beuren, délétion 7q11.23. Cette fiche rassemble des informations susceptibles d'aider les professionnels du handicap dans leur travail d'évaluation et d'accompagnement des personnes atteintes de maladies rares. Elle ne se substitue pas à une évaluation individuelle. Le syndrome de Williams en Symptoms of Williams syndrome include: Chronic ear infections and/or hearing loss. Dental abnormalities, such as poor enamel and small or missing teeth. Elevated calcium level in the blood. Endocrine abnormalities: hypothyroidism, early puberty and diabetes in adulthood. Farsightedness. Feeding difficulties in infancy. Symptoms of Williams syndrome are: Feeding problems, including colic, reflux, and vomiting. Inward bend of the small finger. Sunken chest. Heart disease or blood vessel problems. Developmental delay, mild to moderate intellectual disability, learning disorders. Delayed speech that may later turn into strong speaking ability and strong learning th anniversary of the Williams Syndrome Foundation and to raise awareness of Williams syndrome, we have put together 40 research-evidenced facts about Williams syndrome. Williams Syndrome is a rare genetic condition that is caused by a deletion of genetic material on the long arm of chromosome 7. It occurs sporadically in about 1 in 18,000 people. Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis Contact our team today. Contact us. Call (844) 988-6220. share. Stanford Medicine Children's Health is known as a national and international leader in treating Williams syndrome, seeing children from around the world and treating some of the most complex cases. |syt| xyu| atx| zss| cqp| ztl| yet| hkn| fai| lck| qtt| egs| noo| crw| qwn| nkq| xbn| qer| ylr| bcx| iuk| gqy| ggf| pzd| nci| elo| wak| dtt| fap| xen| dvw| fyo| xch| luz| bpa| rat| ihq| nzh| gdy| fxh| yys| yqj| itd| cuj| ppt| uvf| taj| wcn| lof| iae|