Williams syndrom
En störning som orsakas av hemizygot mikrodeletion av ungefär 28 gener på kromosom 7q11.23, inklusive elastingenen. Kliniska manifesteringar innefattar supravalvulär aortastenos, psykisk funktionsnedsättning, alvliknande ansikte, nedsatt visuospatial förmåga och övergående hyperkalcemi i spädbarnsåldern. Tillståndet drabbar båda könen med uppkomst vid födsel eller i tidig spädbarnsålder.
Förklaring på engelska
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Synonym, svenska: Elfin face syndrom; William-Beurens syndrom
Synonym, engelska: Syndrome, Williams; Contiguous Gene Syndrome, Williams; Supravalvar Aortic Stenosis Syndrome; Chromosome 7q11.23 Deletion Syndrome; Beuren Syndrome; Syndrome, Beuren; Hypercalcemia-Supravalvar Aortic Stenosis; Aortic Stenoses, Hypercalcemia-Supravalvar; Aortic Stenosis, Hypercalcemia-Supravalvar; Hypercalcemia Supravalvar Aortic Stenosis; Hypercalcemia-Supravalvar Aortic Stenoses; Stenoses, Hypercalcemia-Supravalvar Aortic; Stenosis, Hypercalcemia-Supravalvar Aortic; Williams-Beuren Syndrome; Syndrome, Williams-Beuren; Williams Beuren Syndrome; Williams Contiguous Gene Syndrome
| Svensk term | Williams syndrom |
| Synonym på svenska | Elfin face syndrom; William-Beurens syndrom |
| Synonym på engelska | Syndrome, Williams; Contiguous Gene Syndrome, Williams; Supravalvar Aortic Stenosis Syndrome; Chromosome 7q11.23 Deletion Syndrome; Beuren Syndrome; Syndrome, Beuren; Hypercalcemia-Supravalvar Aortic Stenosis; Aortic Stenoses, Hypercalcemia-Supravalvar; Aortic Stenosis, Hypercalcemia-Supravalvar; Hypercalcemia Supravalvar Aortic Stenosis; Hypercalcemia-Supravalvar Aortic Stenoses; Stenoses, Hypercalcemia-Supravalvar Aortic; Stenosis, Hypercalcemia-Supravalvar Aortic; Williams-Beuren Syndrome; Syndrome, Williams-Beuren; Williams Beuren Syndrome; Williams Contiguous Gene Syndrome |
| Engelsk term | Williams Syndrome |
| MESH ID | D018980 |