Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome that results from a heterozygous deletion of contiguous genes aorund the elastin locus at 7q11.23. Autosomal dominant disease. MIM.194050

Synopsis

 Short stature, Intrauterine growth retardation
 Face: Medial eyebrow flare, Flat midface, Periorbital fullness (puffy eyes), Epicanthal folds, Long philtrum
 Eyes: Stellate pattern of iris
 Nose : Depressed nasal bridge , Anteveted nares
 Mouth: Thick lips
 Teeth : Hypodontia, Microdontia
 Heart : Supravalvular aortic stenosis, Valvular aortic stenosis, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Coronary artery stenosis, Pulmonary valve stenosis, Atrial septal defect, Ventricular septal defect
 Vascular: Peripheral pulmonary artery stenosis, Systemic hypertension
 Larynx: Vocal cord paralysis
 Pectus excavatum
 Inguinal hernia
 Diverticulosis
 Kidneys : Small kidneys , Solitary kidney, Pelvic kidney, Nephrocalcinosis, Renal artery stenosis
 Vesicoureteral reflux
 Bladder diverticula
 Urethral stenosis
 Kyphoscoliosis
 Joint limitation
 Hallux valgus
 Mental retardation (average IQ 56), Relative sparing of language, Poor visual-motor integration (Range 41-80), Hypersensitivity to sound Behavioral/psychiatric manifestations, Attention deficit disorder
 Hypoplastic nails
 hoarse voice
 Hypercalcemia

Cytogenetics

 hemizygous deletion at 7q11.23

Etiology

 Contiguous genes deletion syndrome at the 7q11.23 associating mutations in the elastin gene (ELN, MIM.130160), the LIM domain kinase 1 gene (LIMK1, MIM.601329), and/or the replication factor C2, 40kD gene (RFC2, MIM.600404), the WSTF gene, the FKBP6 gene

References

 Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. PMID: #12952863#

 Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell. 2003;113(7):905-17. PMID: #12837248#

 Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8(10):1947-54. PMID: #10469848#