Williams syndrome was first recognized as a unique disorder by New Zealand cardiologist Dr. J.C.P. Williams (born 16 November 1922) while he was registrar at Green Lane Hospital in Auckland.
He noticed that a number of children coming in for heart surgery also had other similar features. They were very sociable and chatty, suffered from varying degrees of mental disability and were somewhat undersized. After being given the go-ahead to do further studies, Dr Williams published a paper on the subject in 1961 (Williams, Barratt-Boyes & Lowe, 1961). Dr. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it “may constitute a previously unrecognized syndrome.” He was the first to identify and describe the syndrome fully, hence its name. |
A year later, Dr. A. J. Beuren, a German pediatric cardiologist, independently described three new patients with the characteristics described by Williams and expanded the phenotype with peripheral pulmonary artery stenosis and dental anomalies (Beuren, Apitz & Harmjanz, 1962).
In 1963 J. Black and R. Bonham-Carter noticed that the faces of individuals with infantile hypercalcemia (Fanconi et al., 1952) and the faces of the individuals described by Williams and Beuren had much in common (Black and Carter, 1963). It was Dr. Beuren who presented in 1972 compelling evidence that “Williams-Beuren syndrome” and infantile hypercalcemia are the same disorder (Beuren, 1972). |
Different terminology used (Genetics Home Reference, 2015):
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Lenhoff et al. (1997) presented pictures, suggesting that children with Williams syndrome were an inspiration for pixie legends, and pointed out that the 'wee, magical people' of assorted folktales were often musicians and storytellers.
In a review of the symptoms and features of the disorder, Lashkari, Smith & Graham (1999) emphasized that family members of individuals with Williams syndrome typically reject use of terminology such as "elfin", as well as descriptions of social symptoms as "cocktail party syndrome". Physicians, family members of individuals with Williams syndrome, and Williams syndrome associations alike have called for the curtailment of such terms. "Whether or not these children have elfin facies is difficult to establish, for while examples of the syndrome are common, this author has never seen an elf. The term should be dropped" Burn (1986). However, many others seem to embrace the "elfin" term. See Brunson (2008) and Lickliter Larkin (2013). |
As with any other disability there are different levels of severity. Below is a list of the variety of clinical features which can be found in WS. Not every individual with WS shows all the features of the syndrome and changing of the craniofacial features occurs with increasing age. Even so, none of the symptoms seems to be pathognomonic for WS. The present study mentioned is from Hagen (2007).
More information on the levels severity and how different ages are affected will be on our Characteristics page.
Is there a link between sudden death and Williams Syndrome?
“Williams syndrome is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament and cardiovascular disease. Sudden death is a recognized complication of WS, however it is thought to be rare. The clinical features of ten children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication that has been assumed previously. Pathologic findings on the seven autopsy cases implicate anatomic abnormalities that predispose individuals with WS to sudden death. The mechanism for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risks of sudden death.” Bird et al. (1996)
“Williams syndrome is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament and cardiovascular disease. Sudden death is a recognized complication of WS, however it is thought to be rare. The clinical features of ten children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication that has been assumed previously. Pathologic findings on the seven autopsy cases implicate anatomic abnormalities that predispose individuals with WS to sudden death. The mechanism for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risks of sudden death.” Bird et al. (1996)
Beuren A.J. (1972) Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth defects Orig Art Ser VIII 5:45-56
Beuren, A., Apitz, J., & Harmjanz, D. (1962). Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance. Circulation, 26(6), 1235-1240. doi:10.1161/01.cir.26.6.1235
Bird, L. M., Billman, G. F., Lacro, R. V., Spicer, R. L., Jariwala, L. K., Hoyme, H. E., ... & Jones, M. C. (1996). Sudden death in Williams syndrome: report of ten cases. The Journal of pediatrics, 129(6), 926-931.
Black J.A, Bonham-Carter R.E. (1963) Association between aortic stenosis and facies of severe infantile hypercalcaemia. Lancet 91:745-749
Brunson, P. (2008). Happy Singing Elf Syndrome. Retrieved 29 July 2015, from http://maggiebrunson.com/?p=27=1
Burn J. (1986) Williams syndrome. J Med Genet 23:389-395
Fanconi G, Girardet P, Schlesinger B, Butler N, Black J (1952) Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations. Helv Paediatr Acta 7:314-349
Genetics Home Reference,. (2015). Williams syndrome. Retrieved 29 July 2015, from http://ghr.nlm.nih.gov/condition/williams-syndrome
Hagen, J. (2007). Williams syndrome: from genes to clinical features. [S.l.: s.n.].
Lashkari, A., Smith, A., & Graham, J. (1999). Williams-Beuren Syndrome: An Update and Review for the Primary Physician. Clinical Pediatrics, 38(4), 189-208. doi:10.1177/000992289903800401
Lenhoff, H., Teele, R., Clarkson, P., & Berdon, W. (2010). John C. P. Williams of Williams-Beuren syndrome. Pediatr Radiol, 41(2), 267-269. doi:10.1007/s00247-010-1909-y
Lenhoff, H. M., Wang, P. P., Greenberg, F., Bellugi, U. (1997) Williams syndrome and the brain. Sci. Am. 277: 68-73.
Lickliter Larkin, H. (2013). Meet Illyra – Memorial Princess Sessions. Fairyography. Retrieved 29 July 2015, from http://www.fairyography.com/meet-illyra-memorial-princess/
Williams, J., Barratt-Boyes, B., & Lowe, J. (1961). Supravalvular Aortic Stenosis. Circulation, 24(6), 1311-1318. doi:10.1161/01.cir.24.6.1311
Beuren, A., Apitz, J., & Harmjanz, D. (1962). Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance. Circulation, 26(6), 1235-1240. doi:10.1161/01.cir.26.6.1235
Bird, L. M., Billman, G. F., Lacro, R. V., Spicer, R. L., Jariwala, L. K., Hoyme, H. E., ... & Jones, M. C. (1996). Sudden death in Williams syndrome: report of ten cases. The Journal of pediatrics, 129(6), 926-931.
Black J.A, Bonham-Carter R.E. (1963) Association between aortic stenosis and facies of severe infantile hypercalcaemia. Lancet 91:745-749
Brunson, P. (2008). Happy Singing Elf Syndrome. Retrieved 29 July 2015, from http://maggiebrunson.com/?p=27=1
Burn J. (1986) Williams syndrome. J Med Genet 23:389-395
Fanconi G, Girardet P, Schlesinger B, Butler N, Black J (1952) Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations. Helv Paediatr Acta 7:314-349
Genetics Home Reference,. (2015). Williams syndrome. Retrieved 29 July 2015, from http://ghr.nlm.nih.gov/condition/williams-syndrome
Hagen, J. (2007). Williams syndrome: from genes to clinical features. [S.l.: s.n.].
Lashkari, A., Smith, A., & Graham, J. (1999). Williams-Beuren Syndrome: An Update and Review for the Primary Physician. Clinical Pediatrics, 38(4), 189-208. doi:10.1177/000992289903800401
Lenhoff, H., Teele, R., Clarkson, P., & Berdon, W. (2010). John C. P. Williams of Williams-Beuren syndrome. Pediatr Radiol, 41(2), 267-269. doi:10.1007/s00247-010-1909-y
Lenhoff, H. M., Wang, P. P., Greenberg, F., Bellugi, U. (1997) Williams syndrome and the brain. Sci. Am. 277: 68-73.
Lickliter Larkin, H. (2013). Meet Illyra – Memorial Princess Sessions. Fairyography. Retrieved 29 July 2015, from http://www.fairyography.com/meet-illyra-memorial-princess/
Williams, J., Barratt-Boyes, B., & Lowe, J. (1961). Supravalvular Aortic Stenosis. Circulation, 24(6), 1311-1318. doi:10.1161/01.cir.24.6.1311
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Date last modified: 30th July 2015