is a rare genetic disorder that affects many
parts of the body. This condition usually presents at birth and is
characterized by mild to moderate learning disabilities, unique personality,
distinctive facial features and cardiovascular problems.
This syndrome is caused due to deletion in the
long arm of chromosome 7 containing 26 genes residing in the “Williams-Beuren
Syndrome chromosome region 1” (WBSCR1). A single deletion of the WBSCR1 region
is sufficient to inherit the disease. The deleted chromosome can be inherited
from either parent. The risk of passing on the gene to children is 50:50 for
Williams syndrome affects 1 in 10,000 individuals globally and affects males and females equally.
What are the Symptoms of Williams Syndrome?
Symptoms of Williams syndrome vary depending on the individual. Not all children or adults present with the same symptoms and facial features.
Most children or adults with Williams syndrome present with a range of medical issues like cardiovascular disease, developmental delay, learning disorders
and musculoskeletal abnormalities. Mild intellectual disability may also be present. Children with Williams syndrome have distinct facial features like: a broad forehead, short nose, full cheeks, full lips and a wide mouth. Most people also have hypodontia or small, underdeveloped teeth.
Children born with Williams syndrome may have a low birth weight and fail to feed and thrive. They may have frequent episodes of diarrhoea, vomiting, gagging and constipation. There may be delay in physical and mental development. Children may have a low, dwarfish stature. Children may show sensitivity to sound and react to loud or high-pitched sounds (hyperacusis). Most children also tend to have frequent middle ear infections.
Hypercalcemia or elevated serum calcium levels is a frequent issue with children. Children may become irritable, weak, confused and tired. Usually the levels normalize spontaneously but most adults with Williams syndrome require careful monitoring of calcium and vitamin D levels.
Children usually have delays in motor development (sitting and walking) and fine motor skills (picking up objects, holding). Endocrine disorders present early in the form of premature development of secondary sexual characteristics like pubic and underarm hair. Females may experience premature breast development and early onset of menstruation.
Around 75% of children with Williams syndrome have congenital heart defects
(CHD). The most common one is supravalvar aortic stenosis which is the narrowing of the artery above the aortic valve. Children may experience symptoms like chest pain, fatigue, giddiness and in rare cases loss of consciousness.
Adults with Williams syndrome often present with abnormally high blood pressure. Joint disorders and musculoskeletal issues are common. Scoliosis (curvature of the spine) is a common problem. Some children and adults often have an awkward gait. Age may progressively lead to further musculoskeletal degeneration.
Additional issues with Williams syndrome include: abnormalities in the kidneys, frequent and chronic urinary tract infections, issues with the thyroid gland and hernias.
Personality in children and adults
Children and adults with Williams syndrome have extremely gregarious and ebullient personalities. They are friendly and enjoy mingling with others. Some children and adults have special talents in music and painting.
Some young Children and adults also show extraordinary talents in speech and long-term memory. However, they may also have low motor and spatial skills thereby requiring life-long caregivers. In some children, attention deficit disorder and hyperactivity
may also be present.
How to Diagnose Williams Syndrome?
Certain specialized blood tests are done to evaluate the serum calcium level for signs of hypercalcemia. A test called fluorescent in situ hybridization (FISH) is usually done to determine if there is a deletion of the elastin gene on chromosome 7. This deletion usually occurs in most individuals with Williams and confirms the diagnosis.
How to Treat and Manage Williams Syndrome?
Children with hypercalcemia are usually placed on a low-calcium diet. Corticosteroids
may be considered for a short time period. Both children and adults require frequent evaluation by endocrinologists for hormone issues.
Individuals affected with cardiac defects must be under the care of a cardiologist and go through routine echocardiograms (ECG). Surgical interventions may be required in some cases.
Dental management is also necessary as both children and adults tend to experience tooth decay frequently. Orthopedic care is also required to take care of musculoskeletal disorders.
Special education services must be made available to children with Williams syndrome along with vocational training for adults. A child or adult with Williams syndrome requires a multidisciplinary approach to treatment. Specialists involved are usually neurologists, psychiatrists, cardiologists, rehabilitation therapists, speech and language therapists.
Parents and families of children or adults with Williams syndrome usually benefit from genetic and psychological counselling to enable them to understand the syndrome and care for affected individuals.