Disease Information for Williams syndrome/Elfin facies: Definition

  • Elfin facies; An elfin facies is usually meant to imply William"s syndrome, in which there are large ridged teeth, prominent jaw and supraorbital ridges; It is probably a poor description since any number of congenital malformations can cause an elf-like face; William"s syndrome is probably the result of abnormal development of the neural crest, leading to a typical elfin facies and hypercalcaemia caused by gastrointestinal calcium absorption; William"s syndrome is usually sporadic; some patients with William"s syndrome are hemizygous for (only have one copy of) the elastin gene, on chromosome 7;

    The characteristics of William"s syndrome are:

    supravalvular aortic stenosis; elfin facies: small upturned nose; large ridged teeth; prominent jaw; supraorbital ridges; children fail to thrive and experience particular difficulties with language; mild mental retardation; IQ from 20 to 106, with a mean of 58; infantile hypercalcaemia,

    exuberant personality - cocktail party chatter,

    premature ageing of the skin; supravalvular aortic stenosis

    ;elfin facies ; failure to thrive; hypercalcaemia;

    management of patients with William"s syndrome includes:

    surgical correction of the cardiovascular defects - supravalvular aortic stenosis; management of the hypercalcaemia of infancy - by a diet deficient in calcium and vitamin D until the tendency to hypercalcaemia resolves, often in the first few years of life,

    note: hypercalcuria may lead to nephrocalcinosis; in some cases there is associated hypercholesterolaemia and there may be renal artery stenosis

    -----[general practice notebook website 2005]--------

    Williams Syndrome; Beuren Syndrome; Early Hypercalcemia Syndrome with Elfin Facies; Elfin Facies with Hypercalcemia; Hypercalcemia-Supravalvar Aortic Stenosis; WBS, Williams-Beuren Syndrome;

    Williams Syndrome, also known as Williams-Beuren Syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, varying levels of mental deficiency, and distinctive facial abnormalities that typically become more pronounced with age; Characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares)