Williams-Beuren syndrome (WBS)

Williams-Beuren syndrome (WBS) is a multisystem genetic disorder caused by a microdeletion on chromosome 7. The majority of patients demonstrate cardiovascular pathology, most commonly supravalvular aortic and/or other vascular stenoses. Progressive stenosis can occur and, furthermore, ¨50% of WBS patients develop hypertension. Although the absolute risk for life-threatening cardiovascular complications is low, certain constellations of problems such as severe biventricular outflow disease increase the relative risk of adverse outcomes. Many additional medical problems complicate WBS such as feeding difficulties, colic and irritability, slow physical growth, abnormal dentition, constipation, and a variety of endocrine abnormalities. All patients with WBS have intellectual handicaps. Most patients function in the range of moderate mental retardation and also demonstrate a characteristic cognitive profile of strengths and weaknesses; notably most individuals with WBS develop anxieties and phobias. The typical, albeit subtle, facial dysmorpology of WBS in conjunction with one or more of the above problems should prompt fluorescence in situ hybridization (FISH) laboratory testing to confirm deletion of one copy of the elastin gene. Almost all WBS patients have the same size microdeletion on one chromosome 7 resulting in loss of one copy of ¨20 genes. The role these genes play in causing the complex WBS phenotype is actively being studied in several research laboratories.
Patients with WBS require long-term care and guidelines for medical management and anticipatory guidance are offered.


1] Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic
stenosis. Circulation 1961;24:1311– 8.

[2] Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in
association with mental retardation and certain facial appearance.

Circulation 1962;26:1235– 40.

[3] Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin
locus in a developmental disorder, Williams syndrome. Nat Genet
1993;5:11 –6.

[4] Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of
Williams syndrome. J Child Neurol 2002;17:269–71.

[5] Greenberg F. Williams syndrome professional symposium. Am J
Med Genet 1990;6:89– 96 [Suppl.].

[6] Grimm T, Wesselhoeft H. Zur Genetik des Willialms-Beuren-
Syndroms und der Ioslierten Form der Supravalvularen Aortenstenose
Untensuchungenvon 128 Familien. Z Kardiol 1980;69:168– 72.

[7] Burn J. Williams syndrome. J Med Genet 1986;23:389–95.

[8] Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL.
Natural history of Williams syndrome: physical characteristics. J
Pediatr 1988;113:318– 26.
Statural growth in Williams-Beuren syndrome. Eur J Pediatr 1992;
151:751– 5.

[9] Partsch CJ, Dreyer G, Gosch A, et al. Longitudinal evaluation of
growth, puberty, and bone maturation in children with Williams
syndrome. J Pediatr 1999;134:82– 9.

[10] Axelsson S, Bjornland T, Kjaer I, Heiberg A, Storhaug K. Dental
characteristics in Williams syndrome: a clinical and radiographic
evaluation. Acta Odontol Scand 2003;61:129–36.

[11] Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams
syndrome—oral presentation of 45 cases. Pediatr Dent
1994;16:262– 7.

[12] Klein AJ, Armstrong BL, Greer MK, Brown III FR. Hyperacusis and
otitis media in individuals with Williams syndrome. J Speech Hear
Disord 1990;55:339– 44.

[13] Greenberg F, Lewis RA. The Williams syndrome. Spectrum and
significance of ocular features. Ophthalmology 1988;95:1608– 12.

[14] Winter M, Pankau R, Amm M, Gosch A, Wessel A. The spectrum of
ocular features in the Williams-Beuren syndrome. Clin Genet
1996;49:28– 31.

[15] Kaplan P, Kirschner M, Watters G, Costa MT. Contractures in
patients with Williams syndrome. Pediatrics 1989;84:895–9.

Lascia un commento

Il tuo indirizzo email non sarà pubblicato.

Questo sito usa Akismet per ridurre lo spam. Scopri come i tuoi dati vengono elaborati.