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International Birth Defects Information Systems
Williams Syndrome

International Birth Defects Information Systems

Williams Syndrome

Topics: | Beuren | Beuren Williams | Elastin Arteriopathy | Elastin | "Elfin" Face | Hypercalcemia | Infantile Hypercalcemia | Supravalvar Aortic Stenosis | Supravalvar Aortic Stenosis | Elfin Facies with Hypercalcemia | Locus: 7q11.2 | Elastin; ELN |

Related Topics: | Bibliography | Disabilities | Birth Defects |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | French | Hungarian | German | Spanish | Ukrainian |

Notes per Visitors  
... distinctive facial appearance ... stellate pattern in iris ... absence of teeth or defective tooth enamel ... long philtrum ... cheerful demeanor ... outbursts, mild to moderate mental retardation, short stature ... feeding problems, joint laxity, delayed speech ... clinodactyly ... supravalvular aortic stenosis ... transient hypercalcemia ... hypercalciuria ... lack of depth perception ... caused by the deletion of genetic material from the region q11.2 of chromosome 7 ... loss of ELN gene ... codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease ... treatment ... cardiovascular monitoring ... narrowing of blood vessels, high blood pressure ... heart failure ... Early intervention and educational programs ...

Williams Syndrome (Williams Beuren Syndrome)
Colleen A Morris, MD, FACMG, Gene Reviews, April 21, 2006
Visitor Comments [for Professionals mainly] "... quality site ... diagnosis and management of Williams syndrome ... includes genetic counseling."
Characterized by cognitive impairment (usually mild mental retardation), a specific cognitive profile, unique personality characteristics, distinctive facial features, and cardiovascular disease (elastin arteriopathy). A range of connective tissue abnormalities is observed and hypercalcemia and/or hypercalciuria are common. Over 99% of individuals with the clinical diagnosis of WS have a contiguous gene deletion of the WS critical region (chromosomal locus 7q11) including the ELN gene, which can be detected using fluorescent in situ hybridization (FISH) ... elastin arteriopathy ... Supravalvar aortic stenosis ... short nose, full nasal tip, malar hypoplasia ... full lips ... malocclusion, small jaw ... earlobes ... full cheeks and small, widely spaced teeth ... long face and neck ... Hoarse voice ... bowel/bladder diverticulae, rectal prolapse, joint limitation or laxity ... lax skin ... some degree of mental retardation ... Overfriendliness ... attention deficit disorder ... idiopathic hypercalcemia (15%), hypercalciuria (30%), early puberty (50%) ... prenatal growth deficiency ...
Autosomal dominant supravalvar aortic stenosis (SVAS) [OMIM] is caused by mutation of the ELN gene or a deletion of 7q11 that is much smaller than the 1.5mb WS critical region deletion that causes WS [Ewart, Morris, Ensing et al 1993, Olson 1993]. Individuals with autosomal dominant SVAS typically have only connective tissue abnormalities, and thus do not have WS ...
Born post-term ... gastroesophageal reflux ... vomiting ... chronic constipation ... Walking usually occurs by 24 months. Speech is also delayed ... Coronary artery stenosis has been implicated in some cases ... Hyperopia is found in 50% ... strabismus in 50% ... Chronic otitis media is seen in 50% ... Chronic abdominal pain ... cholelithiasis, diverticulitis ... Urinary frequency and enuresis (50%) are common in children ...
The prevalence of Williams syndrome in the general population is 1/20,000 ...
initial ... of evaluations ... neurological examination ... growth charts ... Ultrasound examination of the bladder and kidneys Serum BUN and creatinine levels Urinalysis ... Serum total calcium or ionized calcium ... Thyroid ... Ophthalmologic ... developmental evaluation ... cardiovascular system requires lifelong monitoring ... complications of anesthesia in WS, pediatric anesthesia consultation should be considered for surgical procedures in children ... blood pressure ... monitored ... Hypercalcemia ... occur at any age ... should be monitored ... every two years ... The diet should be adjusted so that the calcium intake is not higher than 100% of the RDA ... vitamin D ... not be given multivitamins ... Hyperopia ... Hearing ... malocclusion ...

Victor A. McKusick, OMIM, Johns Hopkins University, June 5, 2008
Visitor Comments [for Professionals mainly]
Hypercalcemia, Infantile
Supravalvar Aortic Stenosis
Elfin Facies with Hypercalcemia
Locus: 7q11.2
Williams syndrome ... disorder which in full-blown form includes supravalvular aortic stenosis, multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, dental malformation, hypercalcemia ... compelling evidence that supravalvar aortic stenosis and idiopathic infantile hypercalcemia are the same disorder ... Preus (1975) pointed out that the iris pattern, ... 'lacey' and by others as 'stellate,' ... stellate pattern was noted in the irides of 51% ... patients and in 12% of the control subjects ... more difficult to detect or was absent in heavily pigmented irides ... (54%) had strabismus, 149 had esotropia. Blue irides were present in 117 (77%) ... Intrauterine growth retardation was present in 35% of the girls and 22% of the boys ... mean growth followed the third percentile pubertal growth ... Menarche occurred ... Mean adult height was 153.9 +/- 6.9 cm in girls (n = 17) and 168.2 +/- 6.9 cm in boys (n = 27), corresponding to the third percentile in both sexes ... mean deficit ... 10.2 cm in girls and 9.1 cm in boys ... 119 patients ... limitation of supination at the elbow with radioulnar synostosis in 9 patients ... IQ in patients with Williams syndrome varies from 20 to 106 (mean = 58) ... remarkable musical and verbal abilities ... empathetic, loquacious and sociable ... harsh, brassy or hoarse voice ... In 10 adults with William syndrome ... supravalvular aortic stenosis in 4, mitral valve prolapse in 3, bicuspid aortic valve in 1, valvular aortic stenosis in 1 ... 59 patients with William syndrome ... 24 patients, peripheral pulmonary stenosis ... stenoses in the cerebral arteries ... onset of puberty at 7.5 years .... Williams syndrome to be about 1 in 10,000 ... (91%), FISH demonstrated deletion of the ELN gene ... deletion size and frequency on chromosome 7q11.23 ... 39 families informative for parental origin, all deletions were de novo and 18 were paternally and 21 were maternally ...

Victor A. McKusick, OMIM, Johns Hopkins University, May 1, 2008
Visitor Comments [for Professionals mainly]
Gene Map Locus: 7q11.2
Elastic fibers are comprised of 2 distinct components ... amorphous component and the microfibrillar component ... mice lacking elastin. These mice died of an obstructive arterial disease that resulted from subendothelial cell proliferation and reorganization of smooth muscle ... not associated with endothelial damage ...

William's Syndrome
The National Institute of Neurological Disorders and Stroke (NINDS), February 14, 2007
Visitor Comments [for Professionals mainly]
Williams syndrome is a rare, congenital (present at birth) disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facial features, heart and blood vessel problems, hypercalcemia (elevated blood calcium levels), low birth weight, slow weight gain, feeding problems, irritability during infancy, dental and kidney abnormalities, hyperacusis (sensitive hearing), musculoskeletal problems, an impulsive and outgoing (excessively social) personality, limited spatial skills and motor control, and intellectual disability (i.e., developmental delay, learning disabilities, mental retardation, or attention deficit disorder). Symptoms vary among patients. Although, individuals with Williams syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.

Genes and Disease (NCBI) Williams Syndrome
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health
Visitor Comments [for Professionals mainly]

Williams-Beuren Syndrome Chromosome Region 1; Wbscr1

Victor A. McKusick, OMIM, Johns Hopkins University, June 21, 1999
Visitor Comments [for Professionals mainly]

Williams Syndrome
Genetics Science Learning Center, University of Utah
Visitor Comments"... shows an example of FISH analysis for a Williams patient ..."
Williams Syndrome is caused by a very small chromosomal deletion on the long arm of chromosome 7.

Williams Syndrome
Lennox H Huang, MD et al., eMedicine, March 17, 2006
Visitor Comments"... good, detailed information ..."
Originally described independently by Williams and Beuren in 1961, Williams syndrome (WS) is a rare genetic condition whose clinical manifestations include a distinct facial appearance, cardiovascular anomalies, hypercalcemia, and a characteristic neurodevelopmental/behavioral profile.

Williams Syndrome
Medically reviewed by Dr. Rob Hicks, BBC, July 2006
Visitor Comments"... for patients ... easy to understand ..."
Williams syndrome is a rare congenital abnormality, which is caused by the deletion of the gene that makes the protein elastin from chromosome 7. This protein is responsible for providing strength and elasticity to blood vessel walls...

Williams Syndrome Foundation (UK)
Visitor Comments [Support Group]
The Williams Syndrome Foundation (UK) was formed, as a Registered Charity, in 1980, with the twin aims of research, and the help and support of families with affected children.

Williams Syndrome Association (WSA)
Visitor Comments [Support Group]
  • Diagnosing Williams Syndrome
    Your doctor can obtain a blood test to confirm the clinical diagnosis of Williams syndrome. A laboratory can use the technique known as fluorescent in situ hybridization (FISH).
  • Facts About Williams Syndrome
    The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe. Some young children with Williams syndrome have elevations in their blood calcium level.
  • Links on WS and Helpful Resources

General Synopsis of Williams Syndrome
Williams Syndrome Foundation, April 15, 2007
Visitor Comments [Support Group]
Causes, incidence, and risk factors:
Williams syndrome is a rare condition whose cause remains undetermined. The most commonly observed findings are mild-to-moderate mental retardation which may be mild to moderate, and abnormal facial features, including prominent lips with an open mouth, a long philtrum (midline of upper lip from lip margin to nose), low nasal bridge, or epicanthal folds. There may be partial absence of the teeth and defective tooth enamel. Affected people may have heart and blood vessel problems, including supravalvular aortic stenosis, pulmonic stenosis and pulmonary artery stenosis. These abnormalities are thought to be due to a subtle defect in connective tissue. Many affected people may have elevated levels of calcium in their blood (hypercalcemia). Bony abnormalities include pectus excavatum, an inward bend of the small finger (clinodactyly), and an inward point of the great toe.

Different Minds
Robert Finn, Williams Syndrome Foundation, 1991
Visitor Comments [Support Group]
People with Williams syndrome are smart and mentally retarded, gifted and inept at the same time. Their disorder remains a mystery. Article appeared in the June 1991 issue of Discover magazine. It is © 1991 by Robert Finn.

Williams Syndrome and the Brain
Dr. H. Lenhoff - et al, Williams Syndrome Foundation, April 15, 2007
Visitor Comments [Support Group] [English] [Spanish] [German] [Japanese]
Scientific American magazine December, 1997 issue has an article on Williams syndrome.

Williams syndrome tested lacked a small piece of one of their two chromosomes called Chromosome # 7
Dr. H. Lenhoff - et al, Williams Syndrome Foundation, April 15, 2007
Visitor Comments [Support Group]
So What Is Elastin? Some Questions and Answers.
Elastin is our body's structural protein that gives elasticity to our tissues and organs. Elastin is found predominantly in the walls of our arteries, in our lungs, intestines, and skin, as well as in other elastic tissues.

First Gene Directly Linked To Williams Syndrome
Dr. H. Lenhoff - et al, Williams Syndrome Foundation, April 15, 2007
Visitor Comments [Support Group]
A Scientific Explanation For WS Families (Written in 1993). The discovery - a loss of the gene for elastin through a microdeletion of chromosome seven.

Guidelines for Parents
Dr. Orlee Udwin and Professor William Yule, Williams Syndrome Foundation, April 15, 2007
Visitor Comments [Support Group]
Description of the Syndrome, Toilet Training, Anxiety, Concentration Difficulties and Overactivity.

Adults With Williams Syndrome Guidelines for Families & Professionals by Dr. Orlee Udwin, Dr. Patricia Howlin and Mark Davies
Dr. Orlee Udwin et al., Williams Syndrome Foundation, April 15, 2007
Hypertension, Renal Problems, Bowel and Gastrointestinal Problems, Menstrual Problems, Over-friendliness.

Williams syndrome
Ursula Bellugi and Paul P. Wang, Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA
Characteristic facial appearance, cardiovascular problems, especially supravalvular aortic stenosis, and hyperacusis ... Most remarkable neuropsychologically is the preservation of linguistic skills in Williams ... In vivo magnetic resonance imaging ... cerebellar size is entirely normal in the Williams subjects ... gray matter structures. Comparisons ... frontal and temporal limbic structures are relatively preserved in Williams ...

Síndrome de Williams-Beuren: presentación de 82 casos
Pascual-Castroviejoa et al., Anales de Pediatría (Martes 1 Junio 2004. Volumen 60 - Número 06 p.530-536)
Visitor Comments [for Professionals mainly] [Illustrated] [Spanish]
Cohorte de 82 pacientes, 47 varones y 35 mujeres ... retraso psicomotor y/o por cardiopatía congénita ... Resultados. Las alteraciones principales consistieron en: facies peculiar (100 %); retraso psíquico con actitud amistosa (90 %); cardiopatía congénita (85,4 %), siendo las estenosis aórtica supravalvular, aislada (60 %) o asociada a estenosis pulmonar (12 %), la malformación más frecuente (72 %) ... Palabras clave: Síndrome de Williams-Beuren. Cardiopatía congénita. Encefalopatía. Trastorno por déficit de atención con hiperactividad ...

Hechos sobre el Síndrome de Williams
Williams Syndrome Association
Visitor Comments [Support Group] [Spanish]
¿Cuáles son las características comunes del Síndrome de Williams? ... Rasgos faciales característicos ... Problemas del corazón y los vasos sanguíneos ...

Asociación Argentina de Síndrome de Williams
Visitor Comments
Es una entidad de bien público, formada exclusivamente por padres ...

Síndrome de Williams
Adriana O. DONATO, May 12, 2007
Visitor Comments [Spanish]

Magyar Williams Szindróma Társaság
Visitor Comments

Williams-Beuren-Syndrom, Regionalgruppe Bayern-Süd
Visitor Comments

Williams, syndrome
CHU de Rouen, January 12, 2007
Visitor Comments [French]
Le mot clé Williams, syndrome [Williams syndrome] est présent au sein de plusieurs arborescences de la base de données bibliographiques Medline. Association Syndrome de Williams association au sein de l'AFrAHM Association Francophone d'Aide aux Handicapés Mentaux

Visitor Comments
En général, la stature des personnes ayant ce syndrome est relativement courte ...

Williams Syndrome
I.B.I.S. Birth Defects
Visitor Comments [for Professionals mainly] [Ukrainian]
A fact sheet for specialists in Ukrainian
Diagnostic criteria ... Clinical features ... Diagnosis and differential diagnosis ... Etiology ... Care and treatment ... Genetic counselling ... OMIM number ...

Williams Syndrome
Visitor Comments [for Professionals mainly] [Ukrainian]
Recommendations of the Ministry of Health of Ukraine and the Kyiv Medical Academy of Post-Diploma Education in Ukrainian
Etiology ... Clinical features ... Diagnosis ... Treatment ... Follow up ...

Williams Syndrome
I.B.I.S. Birth Defects
Visitor Comments [for Parents] [Ukrainian]
A fact sheet for parents in Ukrainian
What is Williams syndrome ... Clinical features ... Causes ... Diagnosis ... Prognosis ... Who can help parents of children with Williams syndrome ... Some peculiarities of children with Williams syndrome ...


Last Updated: 2008/06/13


American Medical Association