Williams syndrome, also known as Williams-Beuren syndrome, is a rare, neurodevelopmental, genetic condition characterized by many symptoms including unique physical features, delayed development, cognitive challenges and cardiovascular abnormalities.
Causes of William’s Syndrome
A deletion, or missing piece, of a region on chromosome 7 causes Williams syndrome.
In our bodies, we have 46 chromosomes total, arranged into 23 pairs.
We inherit one copy of a chromosome in each pair from our parents.
Within our chromosomes are segments of DNA (genetic information) known as genes.
Our genes are our body’s instruction manual that tells it how to form and function.
Symptoms of William’s Syndrome
Chronic ear infections and/or hearing loss.
Dental abnormalities, such as poor enamel and small or missing teeth.
Elevated calcium level in the blood.
Endocrine abnormalities: hypothyroidism, early puberty and diabetes in adulthood.
Feeding difficulties in infancy.
Scoliosis (curve of the spine).
Unsteady walk (gait).
Diagnosis of William’s Syndrome
Often, your healthcare provider may ask for additional tests to confirm the diagnosis and check the symptoms of the condition. Other tests include:
An EKG or echocardiogram (ultrasound of the heart) to check the heart for irregularities.
Check your child’s blood pressure for abnormalities.
Test a sample of your child’s blood or urine to identify symptoms in your child’s kidneys.
Treatment of William’s Syndrome
Although there is no cure for Williams syndrome, it is important to identify and treat the side effects that can occur with this condition. Treatments and interventions must be based on the unique needs of each individual including:
Obtaining a formal evaluation by a cardiologist. If a problem is found in your child’s heart, the cardiologist will determine the best treatment.
Enrolling in early intervention programs, therapies or special education to alleviate developmental delays and/or learning problems.
Visiting a nutritionist or a nephrologist to treat elevated blood calcium levels.
Visiting specialists as needed to address any additional symptoms.