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Williams syndrome(WBS)

MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Synonyms: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB; WBS; Williams-Beuren syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Williams syndrome (63247009); William syndrome (63247009)
 
Genes (locations): ELN (7q11.23); MLXIPL (7q11.23)
OMIM®: 194050

Disease characteristics

Excerpted from the GeneReview: Williams Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. [from GeneReviews]
Authors:
Colleen A Morris   view full author information

Additional descriptions

From OMIM
Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382).  http://www.omim.org/entry/194050
From GHR
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt.A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.  https://ghr.nlm.nih.gov/condition/williams-syndrome

Clinical features

Enuresis
MedGen UID:
8649
Concept ID:
C0014394
Disease or Syndrome
An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).
Intrauterine growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.
Pelvic kidney
MedGen UID:
67446
Concept ID:
C0221209
Congenital Abnormality
A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Poor coordination
MedGen UID:
107874
Concept ID:
C0563243
Finding
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Obsessive-compulsive trait
MedGen UID:
322417
Concept ID:
C1834433
Finding
The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
MedGen UID:
767172
Concept ID:
C3554258

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWilliams syndrome
Follow this link to review classifications for Williams syndrome in Orphanet.

Professional guidelines

PubMed

Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA, del Nido P, Fasules JW, Graham TP Jr, Hijazi ZM, Hunt SA, King ME, Landzberg MJ, Miner PD, Radford MJ, Walsh EP, Webb GD, Smith SC Jr, Jacobs AK, Adams CD, Anderson JL, Antman EM, Buller CE, Creager MA, Ettinger SM, Halperin JL, Hunt SA, Krumholz HM, Kushner FG, Lytle BW, Nishimura RA, Page RL, Riegel B, Tarkington LG, Yancy CW; American College of Cardiology.; American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease).; American Society of Echocardiography.; Heart Rhythm Society.; International Society for Adult Congenital Heart Disease.; Society for Cardiovascular Angiography and Interventions.; Society of Thoracic Surgeons.
J Am Coll Cardiol 2008 Dec 2;52(23):e143-263. doi: 10.1016/j.jacc.2008.10.001. PMID: 19038677

Recent clinical studies

Etiology

Fan CC, Brown TT, Bartsch H, Kuperman JM, Hagler DJ Jr, Schork A, Searcy Y, Bellugi U, Halgren E, Dale AM
Neuroimage Clin 2017;15:343-347. Epub 2017 May 18 doi: 10.1016/j.nicl.2017.05.011. PMID: 28560159Free PMC Article
Collins Ii RT, Collins MG, Schmitz ML, Hamrick JT
Congenit Heart Dis 2017 Mar;12(2):133-142. doi: 10.1111/chd.12447. PMID: 28382779
von Gontard A, Niemczyk J, Borggrefe-Moussavian S, Wagner C, Curfs L, Equit M
Neurourol Urodyn 2016 Nov;35(8):1000-1005. Epub 2015 Sep 14 doi: 10.1002/nau.22866. PMID: 26370069
Hornik CP, Collins RT 2nd, Jaquiss RD, Jacobs JP, Jacobs ML, Pasquali SK, Wallace AS, Hill KD
J Thorac Cardiovasc Surg 2015 Jun;149(6):1516-22.e1. Epub 2015 Feb 14 doi: 10.1016/j.jtcvs.2015.02.016. PMID: 25791950Free PMC Article
Fricke TA, d'Udekem Y, Brizard CP, Wheaton G, Weintraub RG, Konstantinov IE
Ann Thorac Surg 2015 Apr;99(4):1335-41. Epub 2015 Feb 7 doi: 10.1016/j.athoracsur.2014.11.044. PMID: 25661907

Diagnosis

Walton JR, Martens MA, Pober BR
Am J Med Genet A 2017 May;173(5):1159-1171. Epub 2017 Mar 29 doi: 10.1002/ajmg.a.38156. PMID: 28371210
Pérez-García D, Brun-Gasca C, Pérez-Jurado LA, Mervis CB
Am J Intellect Dev Disabil 2017 Mar;122(2):156-172. doi: 10.1352/1944-7558-122.2.156. PMID: 28257245Free PMC Article
Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, Brown TT, Marchetto MC, Bardy C, McHenry L, Stefanacci L, Järvinen A, Searcy YM, DeWitt M, Wong W, Lai P, Ard MC, Hanson KL, Romero S, Jacobs B, Dale AM, Dai L, Korenberg JR, Gage FH, Bellugi U, Halgren E, Semendeferi K, Muotri AR
Nature 2016 Aug 18;536(7616):338-43. Epub 2016 Aug 10 doi: 10.1038/nature19067. PMID: 27509850Free PMC Article
Lough E, Fisher MH
J Autism Dev Disord 2016 Nov;46(11):3424-3433. doi: 10.1007/s10803-016-2885-3. PMID: 27506644
Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K
Congenit Anom (Kyoto) 2014 Nov;54(4):225-7. doi: 10.1111/cga.12065. PMID: 24853877

Therapy

Collins Ii RT, Collins MG, Schmitz ML, Hamrick JT
Congenit Heart Dis 2017 Mar;12(2):133-142. doi: 10.1111/chd.12447. PMID: 28382779
Decimi V, Fazio G, Dell'Acqua F, Maitz S, Galbiati M, Rizzari C, Biondi A, Cazzaniga G, Selicorni A
Eur J Med Genet 2016 Dec;59(12):634-640. Epub 2016 Oct 19 doi: 10.1016/j.ejmg.2016.10.007. PMID: 27771473
Hornik CP, Collins RT 2nd, Jaquiss RD, Jacobs JP, Jacobs ML, Pasquali SK, Wallace AS, Hill KD
J Thorac Cardiovasc Surg 2015 Jun;149(6):1516-22.e1. Epub 2015 Feb 14 doi: 10.1016/j.jtcvs.2015.02.016. PMID: 25791950Free PMC Article
Fricke TA, d'Udekem Y, Brizard CP, Wheaton G, Weintraub RG, Konstantinov IE
Ann Thorac Surg 2015 Apr;99(4):1335-41. Epub 2015 Feb 7 doi: 10.1016/j.athoracsur.2014.11.044. PMID: 25661907
Pineiro ML, Roberts AM, Waxler JL, Mullett JE, Pober BR, McDougle CJ
J Child Neurol 2014 Nov;29(11):NP135-8. Epub 2014 Jan 5 doi: 10.1177/0883073813512025. PMID: 24396132

Prognosis

Rossi NF, Giacheti CM
J Intellect Disabil Res 2017 Jul;61(7):707-718. doi: 10.1111/jir.12388. PMID: 28612476
Fan CC, Brown TT, Bartsch H, Kuperman JM, Hagler DJ Jr, Schork A, Searcy Y, Bellugi U, Halgren E, Dale AM
Neuroimage Clin 2017;15:343-347. Epub 2017 May 18 doi: 10.1016/j.nicl.2017.05.011. PMID: 28560159Free PMC Article
Crespi BJ, Procyshyn TL
Neurosci Biobehav Rev 2017 Aug;79:14-26. Epub 2017 May 10 doi: 10.1016/j.neubiorev.2017.05.004. PMID: 28499504
Hornik CP, Collins RT 2nd, Jaquiss RD, Jacobs JP, Jacobs ML, Pasquali SK, Wallace AS, Hill KD
J Thorac Cardiovasc Surg 2015 Jun;149(6):1516-22.e1. Epub 2015 Feb 14 doi: 10.1016/j.jtcvs.2015.02.016. PMID: 25791950Free PMC Article
Fricke TA, d'Udekem Y, Brizard CP, Wheaton G, Weintraub RG, Konstantinov IE
Ann Thorac Surg 2015 Apr;99(4):1335-41. Epub 2015 Feb 7 doi: 10.1016/j.athoracsur.2014.11.044. PMID: 25661907

Clinical prediction guides

Fan CC, Brown TT, Bartsch H, Kuperman JM, Hagler DJ Jr, Schork A, Searcy Y, Bellugi U, Halgren E, Dale AM
Neuroimage Clin 2017;15:343-347. Epub 2017 May 18 doi: 10.1016/j.nicl.2017.05.011. PMID: 28560159Free PMC Article
Crespi BJ, Procyshyn TL
Neurosci Biobehav Rev 2017 Aug;79:14-26. Epub 2017 May 10 doi: 10.1016/j.neubiorev.2017.05.004. PMID: 28499504
Pérez-García D, Brun-Gasca C, Pérez-Jurado LA, Mervis CB
Am J Intellect Dev Disabil 2017 Mar;122(2):156-172. doi: 10.1352/1944-7558-122.2.156. PMID: 28257245Free PMC Article
Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, Brown TT, Marchetto MC, Bardy C, McHenry L, Stefanacci L, Järvinen A, Searcy YM, DeWitt M, Wong W, Lai P, Ard MC, Hanson KL, Romero S, Jacobs B, Dale AM, Dai L, Korenberg JR, Gage FH, Bellugi U, Halgren E, Semendeferi K, Muotri AR
Nature 2016 Aug 18;536(7616):338-43. Epub 2016 Aug 10 doi: 10.1038/nature19067. PMID: 27509850Free PMC Article
Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K
Congenit Anom (Kyoto) 2014 Nov;54(4):225-7. doi: 10.1111/cga.12065. PMID: 24853877

Recent systematic reviews

Binelli C, Subirà S, Batalla A, Muñiz A, Sugranyés G, Crippa JA, Farré M, Pérez-Jurado L, Martín-Santos R
Neuropsychologia 2014 Nov;64:205-17. Epub 2014 Sep 4 doi: 10.1016/j.neuropsychologia.2014.08.027. PMID: 25194208
Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd
Am J Med Genet A 2014 Aug;164A(8):1998-2002. Epub 2014 May 20 doi: 10.1002/ajmg.a.36601. PMID: 24844942
McCarty HM, Tang X, Swearingen CJ, Collins RT 2nd
Am J Cardiol 2013 May 15;111(10):1501-4. Epub 2013 Feb 21 doi: 10.1016/j.amjcard.2013.01.308. PMID: 23433766Free PMC Article
Martens MA, Wilson SJ, Reutens DC
J Child Psychol Psychiatry 2008 Jun;49(6):576-608. doi: 10.1111/j.1469-7610.2008.01887.x. PMID: 18489677
Tager-Flusberg H, Skwerer DP, Joseph RM
Soc Cogn Affect Neurosci 2006 Dec;1(3):175-82. doi: 10.1093/scan/nsl035. PMID: 18985104Free PMC Article

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