Williams syndrome (WS), or Williams-Beuren syndrome, is a multisystem condition caused by chromosome 7 loss. It was first discovered in 1961. The occurrence is 1 in 7500 live births, distributed evenly across males and females. Pediatricians typically diagnose children with Williams syndrome when they are still infants or very young.
Williams syndrome is one of the hereditary genetic disorders that can cause coronary issues and distinctive physical characteristics. Though children with Williams-Beuren syndrome have a chance at an average life span, the condition’s potential complications might cloud any long-term outlook.
What Is Williams Syndrome?
Williams-Beuren syndrome is a hereditary, neurodivergent disorder that causes various symptoms, such as distinctive physical characteristics, developmental delays, intellectual difficulties, and heart problems. Most people with Williams syndrome are of average height or somewhat shorter due to possible stunted growth throughout childhood. Extra calcium in the urine and blood, an underactive thyroid, and premature puberty are just a few endocrine issues that can arise from Williams disorder.
26-28 genes are missing from the chromosome 7 deletion. Elastin, a structural protein in connective tissue’s elastic fibers, is encoded by the ELN gene. Some facial traits, a raspy voice, bladder, and intestinal diverticula, an inguinal hernia, cardiovascular illness, and orthopedic difficulties are all attributable to the ELN loss that causes WS.
Deletion of adjacent genes in the region probably contributes to the etiology of other traits, such as intellectual impairment. There is a 50% probability that affected individuals will pass the deletion on to their children.
Supravalvular aortic stenosis (SVAS) is an autosomal dominant disorder that occurs when the ELN gene is deleted alone or when the ELN gene carries a mutation or pathogenic variation. These patients do not suffer from WS. Chromosomal microarrays performed for developmental impairment constitute the gold standard for diagnosing WS. Several of these individuals lack the common WS-associated deletion and have diverse phenotypes that may be absent of WS’s hallmark symptoms. People with the usual deletions are the only ones who get the WS diagnosis.
Family members and parents should consult a medical professional to learn more about what Williams syndrome is, its symptoms, its expected course, and the likelihood of a recurrence.
Characteristic Physical Appearance
Williams disorder is characterized by a broad forehead, narrow bitemporal region, full periorbital area, stellate and/or lacy iris pattern, small nose with a knobby frontal tip, large mouth, pouty lips, and mild micrognathia. In contrast to the long neck and narrow face often seen in older children and adults, infants have epicanthal folds, broad cheeks, and a flatter facial profile. Teeth in young children are typically tiny and widely dispersed.
Heart Problems
Half of neurodivergent WS patients also have hypertension, which can strike at any age and is sometimes linked to renal artery stenosis. Elastin arteriopathy also manifests as increased arterial stiffness, a stroke risk factor, in hypertensive and normotensive adults and children with Williams disorder. Antihypertensive medication can potentially reduce blood pressure and ease vascular stiffness.
Due to their circulatory abnormalities, WS patients are at a higher risk for myocardial ischemia, abrupt hemodynamic deterioration, and sudden death; and even more so when under anesthesia or sedation.
Hypercalcemia
Extreme irritability, constipation, vomiting, and muscle cramps may all be symptoms of idiopathic infantile hypercalcemia. Hypercalcemia has a number of side effects, such as hypercalciuria, dehydration, and nephrocalcinosis.
Most cases of hypercalcemia with obvious symptoms occur in infants and toddlers and go away by early childhood; however, calcium and vitamin D metabolism anomalies can last a lifetime.
The median calcium levels of people with WS are greater than those of healthy people across all age ranges. The origin of the calcium metabolism irregularity is unknown; however, the body absorbs more calcium than usual from the digestive tract.
Treatment of hypercalcemia in infants typically involves a low-calcium diet, increased water consumption, and more frequent monitoring of calcium concentrations, all under the care of medical and nutritional professionals.
Regarding vitamin D supplementation, it’s best to exercise caution, especially in younger children and infants, and to avoid multivitamin formulations that already contain vitamin D.
Osteopenia or osteoporosis affects around half of neurodivergent WS patients.
Gastrointestinal Issues
Symptoms of gastroesophageal reflux, colic, or inability to achieve predicted weight gain are common reasons parents of infants and toddlers with WS seek medical attention. This is because these children often have trouble eating.
Babies who have issues with eating solids, those who have been diagnosed with aspiration risk or dysphagia, and those who have not gained enough weight based on the WS growth curves may all benefit from a feeding evaluation and therapy. Adults and older children alike may face difficulties with obesity.
Constipation can be a problem for the rest of one’s life and must be treated seriously. An increase in fluid and fiber intake is the first line of defense, followed by using osmotic laxatives. Constipation can lead to several unpleasant side effects, including intestinal perforation, rectal prolapse, and hemorrhoids. Adolescents and adults, in particular, have a higher rate of developing diverticulitis than younger age groups.
Both kids and adults frequently report experiencing stomach pain.
Urinary Troubles
Among children with WS, 10% have abnormalities in the urinary tract, 50% have bladder diverticula, and 25% have a history of urinary tract infections.
About 60% of patients have reduced bladder capacity with detrusor overactivity, contributing to the urinary frequency in almost 70% of those. Constipation and nocturia are under control in about half of children by age 10, and daytime continence is frequently reached by age 4.
Neurological Issues
Neurological issues include weakness in the upper body (axial hypotonia) and the lower body (peripheral hypertonia) with enhanced deep tendon reflexes. Tremor and ataxia are two of the symptoms of cerebellar dysfunction, which may worsen with age.
When a patient presents with dizziness, headache, and dysphagia, the treating physician should consider referring them to a pediatric neurologist to screen for Chiari malformation. Developmental milestones are stalled, and kids should be referred to an early intervention program for speech, occupational, and physical therapy assessment and treatment.
Nightly stretching range-of-motion exercises and hippotherapy may be recommended to address balance and joint laxity issues.
Behavioral Problems
Noise sensitivity, ADD/ADHD, and nonsocial anxiety are all potential behavioral issues when we consider what Williams syndrome is. About half of the kids with WS will need medication for ADHD and/or anxiety. However, many people struggle to control their emotions, despite their propensity toward kindness and empathy.
Children with developmental delays in language acquisition may have certain symptoms similar to those on the autism spectrum, including repetitive tasks and limited interests.
ABA-based behavioral therapies may be beneficial; older children can learn how to perform everyday tasks independently and engage in social skills training.
Between 25 and 75 percent of patients have reported experiencing a mental health issue, most frequently anxiety. The same is true for sleep disorders.
To Conclude
If your child has been diagnosed with Williams syndrome, the best thing you can do is shower them with affection and encouragement. To manage any symptoms, especially cardiovascular complications, they will need to see their primary care physician and maybe a specialist frequently.
If your kid is having trouble in regular school settings, they may benefit from participating in a special education program. It’s important to remember to be patient as your kid learns and develops skills and abilities at their own pace.
Don’t hesitate to schedule an appointment with our team of experts at the Pediatric Endocrine and Metabolic Center of Florida if you notice any worrying symptoms in your child.