December 2, 2023

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Williams Syndrome: Causes | Symptoms | Diagnosis and Management

Williams Syndrome: Causes | Symptoms | Diagnosis and Management

Williams Syndrome: Causes | Symptoms | Diagnosis and Management

Williams syndrome is a condition characterized by developmental delays, cardiovascular disorders such as supravalvular aortic stenosis, distinctive facial features often described as “elfin” appearance, and other associated characteristics.

It is caused by chromosomal abnormalities and is often diagnosed during infancy, particularly when congenital heart problems are identified.


The estimated prevalence of Williams syndrome is approximately 1 in 20,000 people. However, it often goes undetected in cases where there are no heart-related issues, leading to the possibility of undiagnosed individuals.


The diseases and symptoms associated with Williams syndrome can vary widely among affected individuals. Currently, there is no cure, but it is crucial for those with Williams syndrome to undergo regular check-ups throughout their lives to monitor and detect potential complications.



Williams syndrome is caused by chromosomal abnormalities. Patients with Williams syndrome typically have a very small deletion on chromosome 7, which results in the loss of one copy of this chromosome. This deleted portion contains approximately 20 genes, and the specific genes affected by the deletion can lead to the development of cardiovascular issues, visuospatial cognitive impairments, and more.

The likelihood of a sibling having Williams syndrome if one child in the family has the condition is generally low. In other words, even if the first child has Williams syndrome, it is rare for their siblings to develop the same condition. However, it is known that there is about a 50% chance of passing on Williams syndrome to the patient’s own children.


Williams Syndrome: Causes | Symptoms | Diagnosis and Management




Common symptoms of Williams syndrome include developmental delays, short stature, visuospatial cognitive impairments, hypersensitivity, and a preference for music. Additionally, affected individuals often exhibit distinctive facial features, known as the “elfin” appearance, which includes thick inner eyebrows, puffy eyelids, and upturned nostrils.

Other diverse systemic disorders and symptoms that may be present in Williams syndrome include:

  • Cardiovascular disorders, such as supravalvular aortic stenosis, atrial and ventricular septal defects, and pulmonary artery stenosis.
  • Endocrine disorders, including hypothyroidism and hypercalcemia.
  • Renal and urological issues, such as kidney malformations and bladder diverticula.
  • Gastrointestinal problems, like gastroesophageal reflux, rectal prolapse, and inguinal hernias.
  • Orthopedic conditions, including joint laxity in childhood and joint stiffness in adulthood.
  • Ophthalmological conditions, such as strabismus and hyperopia.
  • Otorhinolaryngological problems, such as hearing loss and recurrent otitis media.
  • Dental issues, like malocclusion.


It’s important to note that not all patients will exhibit all these symptoms, and the manifestations can vary widely among individuals.



Examination and Diagnosis

When developmental delays, short stature, and distinctive facial features resembling an “elfin” appearance (such as puffy eyelids and upturned nostrils) are observed in infants and young children, the possibility of Williams syndrome is often considered, leading to genetic testing.

Genetic testing often involves the use of a method called Fluorescence In Situ Hybridization (FISH), which can identify specific genetic loci. Normally, chromosome 7 contains the elastin (ELN) gene, which is involved in the structure of proteins. However, patients with Williams syndrome have a deletion in the ELN gene region, which can be confirmed using the FISH method, leading to a diagnosis of Williams syndrome.

In addition to FISH, microarray chromosome analysis has recently become eligible for insurance coverage. This testing method thoroughly and reliably checks for small deletions or duplications of chromosomes. Even if Williams syndrome was not initially suspected, it might be discovered through microarray chromosome analysis.

If Williams syndrome is diagnosed, further tests, such as echocardiograms and chest X-rays, are often performed to determine the presence and severity of cardiovascular issues. In some cases, cardiac catheterization may be considered.



There is no cure for Williams syndrome. Therefore, treatment primarily focuses on managing the specific diseases and symptoms that occur.

For example, cardiovascular disorders and high blood pressure can pose life-threatening risks, including the potential for myocardial infarction (heart attack). Regular examinations and assessments are conducted to monitor the risk of these conditions. Surgical interventions may also be considered for severe supravalvular aortic stenosis or renal vascular hypertension.

Additionally, occupational therapy, speech therapy, physical therapy, and psychological counseling may be provided as needed.




There are no methods to prevent Williams syndrome.

For individuals who have already been diagnosed with Williams syndrome, it is essential to prioritize the prevention and early detection of potential complications through regular check-ups and examinations. Furthermore, individuals with Williams syndrome are prone to hypercalcemia, which can lead to abnormalities in vitamin D metabolism. Therefore, caution should be exercised when using comprehensive vitamin supplements containing vitamin D from infancy to old age.

It is also worth noting that sudden deaths during anesthesia have been reported in patients with Williams syndrome. Hence, extra precautions are required when administering anesthesia during surgical procedures or cardiac catheterizations.



For Physicians

For detailed information and medical articles related to Williams syndrome, you can refer to Medical Note Expert for additional resources and insights.


Williams Syndrome: Causes | Symptoms | Diagnosis and Management

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