Williams syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Synonyms and Keywords: Beuren-Williams syndrome; supravalvular aortic stenosis hypercalcemia syndrome; Williams syndrome; Williams-Beuren syndrome; Chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb; WMS; WS

Overview

Williams syndrome (also Williams-Beuren syndrome) is a rare genetic disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia.

Historical Perspective

The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand.[1]

Classification

There is no established system for the classification of Williams syndrome.

Pathophysiology

It is thought that Williams syndrome is caused by the deletion of genetic material that contains elastin (ELN) gene from the region q11.2 of chromosome 7. There are several other genes, apart from ELN gene that contributes to manifestation of williams syndrome and, therefore, is considered a contiguous gene deletion syndrome.[2] The cardiovascular findings, part of the connective tissue pathology, and facial dysmorphology are mainly attributed to the elastin gene deletion. [3] LIMK1 and a number of other genes such as GTF1IRD1, GTF2I, NCF1, STX1A, CLIP2, and TFII-1 are felt to influence the cognitive profile of Williams syndrome.[4] Some other genes are considered for manifestation of conditions such as elevated calcium, glucose metabolism, and hypertension.

Epidemiology and Demographics

The incidence of Williams syndrome is approximately 1 per 75,000 individuals worldwide.[5] Williams syndrome is considered for about 6% of all genetic cases of developmental disability.[6] William syndrome affects male and female in equal numbers and infants of any race may be affected.

Risk Factors

There are no established risk factors for Williams syndrome.

Screening

There is insufficient evidence to recommend routine screening for Williams syndrome.

Natural History, Complications, and Prognosis

Common complications of Williams syndrome include:

There is no significant reduction in life expectancy in children diagnosed with Williams syndrome unless there is any significant heart condition or problems in the kidney.

Diagnosis

The clinical diagnosis of Williams syndrome can be made in early childhood based on characteristic facial features. However, the diagnosis of Williams syndrome is confirmed by genetic testing (fluorescent in situ hybridization) that can detect deletion of one elastin gene on chromosome 7.[7]

Symptoms

The hallmark feature of Williams syndrome is typical 'elfin' facies (upturned nose, wide forehead, and small teeth). A positive history of congenital heart disease and neuro-developmental delay is suggestive of Williams syndrome. Williams syndrome can be manifested with various non- specific complains such as poor growth, short stature, muscle weakness, hyperflexible joints, intellectual disability, visual disturbances, chronic ear infections or hearing loss, dental abnormalities. [8] [9]

Physical Examination

Patients with Williams syndrome usually have typical 'elfin facies' in appearance. Physical examination of patients with Williams syndrome is usually remarkable for characteristic cardiac lesion such as supravalvar aortic stenosis (SVAS), pulmonary stenosis and mitral valve regurgitation along with arterial hypertension.

On physical examination, ocular findings in Williams syndrome can include strabismus, a stellate iris, cataract or retinal vascular tortuosity. Audiological evaluation may report sensorineural hearing loss in some patient. Other findings include joint hyperelasticity, contractures, kyphoscoliosis, and lordosis along with generalised hypotonia. [10]

Laboratory Findings

Laboratory findings consistent with the diagnosis of Williams syndrome include elevated calcium level with hypercalciuria [11], mild thyroid-stimulating hormone elevation with normal thyroxine T4 (sub-clinical hypothyroidism in 5 to 10 percent ) [12], and abnormal glucose tolerance test in 60 to 75 percent. [13]

Electrocardiogram

An ECG may be helpful to look for any cardiac anomalies such as septal defects that may be related to Williams syndrome.

X-ray

There are no x-ray findings associated with Williams syndrome. However, an x-ray may be helpful to look for associated anomalies with Williams syndrome.

Echocardiography or Ultrasound

Renal ultrasound may be helpful in the diagnosis of Williams syndrome. Findings on renal ultrasound suggestive of Williams syndrome include bladder diverticula, ectopic or horseshoe kidney, and renal aplasia or hypoplasia. Nephrocalcinosis secondary to hypercalciuria is detected in approximately 5 to 10 percent of patients undergoing renal ultrasound. [14]

CT scan

There are no CT scan findings associated with Williams syndrome.

MRI

There are no MRI findings associated with Williams syndrome.

Other Imaging Findings

There are no other imaging findings associated with Williams syndrome.

Other Diagnostic Studies

Other diagnostic studies for Williams syndrome include audiologic evaluation, which demonstrates high tone sensorineural hearing loss, and ophthalmic evaluation, which demonstrates strabismus and refractive errors.

Treatment

Based on 2020 American Academy of Pediatrics (AAP) healthcare supervision guidelines for Williams Syndrome, the approach to the management of Williams syndrome consists of 3 major steps:[15]

Medical Therapy

There is no treatment for Williams syndrome; the mainstay of therapy is supportive care and management of specific conditions or complications related to Williams syndrome.

Surgery

Surgery is the mainstay of treatment for supra-valvular aortic stenosis, which is one of the specific condition related to Williams syndrome.

Primary Prevention

There are no established measures for the primary prevention of Williams syndrome.

Secondary Prevention

There are no established measures for the secondary prevention of Williams syndrome.

References

  1. "The Gregarious Brain," by David Dobbs. The New York Times, July 8, 2007. [1]
  2. Merla G, Ucla C, Guipponi M, Reymond A. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002 May. 110(5):429-38.
  3. Mari A, Amati F, Mingarelli R, et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet. 1995 Oct. 96(4):444-8.
  4. assabehji M, Metcalfe K, Fergusson WD, et al. LIM-kinase deleted in Williams syndrome. Nat Genet. 1996 Jul. 13(3):272-3.
  5. "Morris CA, Braddock SR, COUNCIL ON GENETICS. Health Care Supervision for Children With Williams Syndrome. Pediatrics 2020; 145.
  6. Stromme, P.; Bjomstad, P. G.; Ramstad, K. (2002). "Prevalence Estimation of Williams Syndrome". Journal of Child Neurology. 17 (4): 269–71.
  7. Lowery MC, Morris CA, Ewart A, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 1995; 57:49.
  8. Pober BR (2010). "Williams-Beuren syndrome". N Engl J Med. 362 (3): 239–52. doi:10.1056/NEJMra0903074. PMID 20089974.
  9. Game X, Panicker J, Fowler CJ (2010). "Williams-Beuren syndrome". N Engl J Med. 362 (15): 1449, author reply 1450. doi:10.1056/NEJMc1001965. PMID 20393184.
  10. Bruno E, Rossi N, Thuer O, et al. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young. 2003 Dec. 13(6):532-6.
  11. Sindhar S, Lugo M, Levin MD, et al. Hypercalcemia in Patients with Williams-Beuren Syndrome. J Pediatr 2016; 178:254.
  12. Kim YM, Cho JH, Kang E, et al. Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab 2016; 21:15.
  13. Pober BR, Wang E, Caprio S, et al. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome. Am J Med Genet C Semin Med Genet 2010; 154C:291.
  14. Ingelfinger JR, Newburger JW. The spectrum of renal anomalies in patients with Williams syndrome. J Pediatr 1991; 119:771.
  15. Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP; et al. (2009). "[Williams-Beuren syndrome: a multidisciplinary approach]". Arch Pediatr. 16 (3): 273–82. doi:10.1016/j.arcped.2008.11.011. PMID 19097873.
  16. Morris CA, Braddock SR, COUNCIL ON GENETICS (2020). "Health Care Supervision for Children With Williams Syndrome". Pediatrics. 145 (2). doi:10.1542/peds.2019-3761. PMID 31964759.

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da:Williams syndrom de:Williams-Beuren-Syndrom it:Sindrome di Williams-Beuren he:תסמונת ויליאמס hu:Williams-szindróma nl:Williams-syndroom