Williams-Beuren syndrome: Renal manifestations
- Wayne R Waz, MD
Wayne R Waz, MD
- Associate Professor of Pediatrics
- University of Buffalo School of Medicine and Biomedical Sciences
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Patrick Niaudet, MD
Patrick Niaudet, MD
- Section Editor — Pediatric Nephrology
- Professor of Pediatrics
- Hôpital Necker-Enfants Malades, Paris, France
Williams-Beuren syndrome (WBS) (also known as Williams syndrome; OMIM #194050 ) is a multisystem genetic disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which encompasses approximately 28 genes, including the elastin gene, ELN.
A summary of the diagnosis and evaluation of WBS and an in-depth review of the renal manifestations of this disorder are presented here.
The use of genetic testing to confirm the diagnosis has demonstrated that WBS is one of the more common genetic disorders, with an estimated incidence of 1:10,000 live births .
Affected patients present with variable phenotypic expression of the following manifestations :
●"Elfin" facies, consisting of a broad forehead, medial eyebrow flare, strabismus, flat nasal bridge, malar flattening, a short nose with a long philtrum, full lips, and a wide mouth (picture 1) [3-5].
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- CLINICAL MANIFESTATIONS
- Renal manifestations
- - Hypertension
- - Hypercalcemia
- - Renal and urinary tract abnormalities
- Clinical diagnosis
- Genetic testing
- Initial evaluation
- Continued care
- - Further evaluation and management for hypertension
- SUMMARY AND RECOMMENDATIONS