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Williams Syndrome Clinical Presentation

  • Author: Joanna Lazier, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
Updated: Jan 14, 2015


The history obtained from caregivers of patients with Williams syndrome varies and reflects the wide phenotypic spectrum observed in the syndrome. This includes a pattern of growth and development and a specific neurodevelopmental profile primarily involving 4 areas: cognitive development, language, auditory function, and visuospatial function, as in the following[46, 47, 48] :

  • Children have prenatal and postnatal growth delay and usually present with failure to thrive. Short stature is common in children who are shorter than their family background, and adults reach a mean height that is often below the third percentile. A history of feeding problems and poor weight gain is common.
  • A history of recurrent middle ear infections and/or effusions in childhood and progressive mild-to-moderate high frequency sensorineural hearing loss is noted in most adolescents and adults.
  • A history of visual disturbances is possible. These are mainly related to esotropia, cataracts, and hyperopia in as many as 50% of individuals with Williams syndrome.
  • A history of congenital heart disease is common, and hypertension may be noted.
  • In children, functional problems, including a history of increased urinary frequency and daytime wetting, is possible.[49] Delayed toilet training is not uncommon. A history of renal abnormalities is also possible, as well as a history of hypercalcemia and hypercalciuria.
  • A history of delayed bone age, and decreased insulinlike growth factor-1 (IGF1) levels may be noted.[50, 51] Early pubertal onset may be noted. Glucose tolerance or overt diabetes mellitus may be detected in patients older than 20 years[29] ; subclinical hypothyroidism may also be noted.[52, 53]
  • A history of connective tissue abnormalities, such as abnormal joint mobility, hernias, and diverticula, is possible.
  • Children may have histories of chronic abdominal pain, and they are at increased risk for celiac disease.
  • Children with Williams syndrome typically have mild-to-moderate mental retardation, but the range includes severe mental retardation to average intelligence.[46] Abilities should be considered on an individual basis due to the wide variability among individuals.[54] Impaired motor development is often apparent before age 42 months.[55]
  • Early language acquisition is delayed,[56, 57] and although mild-to-moderate language impairments persist throughout life, the quality and affect of speech are relatively normal.
  • Visual-spatial problems impact daily life, with difficulties in handwriting, drawing, and gait apraxia, especially on uneven or sandy surfaces.[58]
  • Interest and enthusiasm for music is almost universal in patients with Williams syndrome, but the ability to perform professionally is exceptional.
  • As many as half of all children with Williams syndrome may exhibit autism spectrum social and communicative deficits.[59]
  • Children with Williams syndrome are described as overly friendly, hyperactive, inattentive, and hypersensitive to loud sounds or certain types of sounds.[60, 61]
  • Adults may have a high rate of emotional and behavioral problems, poor social relationships and anxiety, preoccupations and obsessions, phobias, panic attacks, and depression.[62, 63] Few adults achieve complete independence with daily living.[64, 65, 66]


Phenotypic expression of Williams syndrome widely varies. Virtually all cases have typical facial features that can be recognized even at birth, as in the following:

  • Children with Williams syndrome are generally full-term infants with prenatal growth delay. Specific growth curves for Williams syndrome have been established.[67]
  • Microcephaly is observed in one third of children,[68] and postnatal failure to thrive is typical.
  • Virtually all children and adults with Williams syndrome have some combination of the following facial features: short upturned nose, flat nasal bridge, long philtrum, flat malar area, wide mouth, full lips, dental malocclusion and widely spaced teeth, micrognathia, and periorbital fullness. A stellate, lacy pattern of the irises can be observed in children with blue eyes. The voice may be hoarse. Nails tend to be hypoplastic and the skin soft and lax, and the halluces have a valgus deviation.
  • Problems with primary and secondary dentition include small and peg-shaped teeth, increased interdental spacing, absence of one or more primary or secondary teeth, anterior cross-bite malocclusion, and excessive gingival tissue.[69, 70, 71]
  • The diagnosis of Williams syndrome should also be considered after an incidental finding of idiopathic hypercalcemia or a characteristic cardiac lesion such as supravalvar aortic stenosis (SVAS). Other cardiac lesions in patients with Williams syndrome can include pulmonary stenosis and mitral valve regurgitation.[44, 64] Arterial hypertension may be present. If the distinct facial features are not evident, consider referral to a practitioner experienced in examining the facial features of Williams syndrome, such as a clinical geneticist or cardiologist experienced in dysmorphology.
  • Ocular findings can include strabismus (usually due to esotropia), a stellate iris, cataract, retinal vascular tortuosity, and reduced binocular vision; a case of Reiger anomaly has even been reported.[43, 72, 73]
  • Sensorineural hearing loss can be present and is likely underdiagnosed.[74] It is often progressive in nature, and it can be aggravated by conductive loss due to middle ear effusions.
  • Examine patients for signs of precocious puberty.
  • Other findings include hyperacusis (despite hearing loss), hoarse voice, joint hyperelasticity, contractures, kyphoscoliosis, and lordosis.
  • Monitor for hypertension at every visit.
  • Generalized hypotonia is found in infants with Williams syndrome and progresses to spasticity with age.[71]
  • Dental issues can include microdontia, enamel hypoplasia, and malocclusion.


A deletion on band 7q11.23 near the elastin gene is identified in virtually all individuals with Williams syndrome. The underlying etiology is believed to be unequal meiotic crossover events that lead to interstitial deletions.[75, 76] These deletions may result in unbalanced interchromosomal and, to a lesser extent, intrachromosomal rearrangements.

Mechanisms whereby chromosomes paired during meiosis may undergo unequal crossover resulting in Williams syndrome have typically been thought to result from an unequal overlap of repetitive Alu sequences flanking the region, resulting in a type of misalignment of the chromosomal regions during a crossover event.[77]

In addition, another mechanism that has recently been shown includes a familial inversion polymorphism in the Williams syndrome region that may predispose to unequal crossover during meiosis.[78]

Contributor Information and Disclosures

Joanna Lazier, MD Resident Physician, Department of Medical Genetics, University of Calgary Faculty of Medicine, Canada

Joanna Lazier, MD is a member of the following medical societies: Alberta Medical Association, American Society of Human Genetics, Canadian Medical Association, Canadian Association of Interns and Residents, Professional Association of Resident Physicians of Alberta

Disclosure: Nothing to disclose.


Aneal Khan, MD, MSc FRCP(C), FCCMG, Assistant Professor of Medical Genetics and Pediatrics, University of Calgary Faculty of Medicine; Consulting Staff, Departments of Pediatrics and Medical Genetics, Alberta Children's Hospital, Canada

Aneal Khan, MD, MSc is a member of the following medical societies: Canadian Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Jeffrey Allen Towbin, MD, MSc FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, Texas Pediatric Society, Cardiac Electrophysiology Society

Disclosure: Nothing to disclose.


The authors and editors of Medscape Drugs & Diseases gratefully acknowledge the contributions of previous coauthors Oana Caluseriu, MD, Lennox H Huang, MD, FAAP, and Nathaniel H Robin, MD, to the development and writing of the source article.

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Two-dimensional suprasternal echocardiographic image of supravalvular aortic stenosis (SVAS).
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