Williams Syndrome , also known as Williams-Beuren Syndrome, is a rare genetic disorder caused by a small deletion in a chromosome. This deletion affects several genes, resulting in a variety of physical, cognitive and behavioral characteristics.
Physical characteristics:
- Distinctive Face: The most striking feature of Williams Syndrome is the typical face, often described as “gnome face” or “fairy face”. That includes:
- Full cheeks
- Wide forehead
- Small chin
- Small, upturned nose
- Thick lips
- Large, well-separated eyes
- Swelling around the eyes (periorbital edema)
- Other Possible Signs:
- Short
- Blonde or light brown hair
- Thin, sun-sensitive skin
- Small, widely spaced teeth
- Vision and hearing problems
- Congenital heart defects, such as supravalvular aortic stenosis
Age of Detection:
The facial features of Williams Syndrome are usually visible from birth. However, some symptoms, such as heart problems and developmental delay, may not manifest themselves until later in childhood.
Symptoms and Risks:
- Development Problems:
- Delay in motor and speech development
- Learning and language difficulties
- Poor fine and gross motor coordination
- Anxiety and fear of heights
- Excessive concern about certain topics
- Difficulties with changes and routines
- Sleep problems
- Sphincter control
- Health problems:
- Supravalvular aortic stenosis (narrowing of the aorta)
- Pulmonary hypertension
- Hypercalcemia (high blood calcium levels)
- Gastroesophageal reflux problems
- Kidney diseases
- Hearing and vision problems
- Psychological and Social Aspects:
- Outgoing and friendly personality
- High emotional sensitivity
- Good memory for faces, names and places
- Difficulty making friends with other children
- Fear of strangers
It is important to remember that the severity of Williams Syndrome symptoms varies greatly from person to person.
Treatment:
There is no cure for Williams Syndrome, but treatment can help manage symptoms and improve quality of life. Treatment may include:
- Therapy:
- Physiotherapy to improve motor coordination
- Speech therapy to improve speech and language
- Occupational therapy to assist with activities of daily living
- Psychology to deal with anxiety and other emotional problems
- Medicines:
- To control blood pressure
- To reduce blood calcium levels
- To treat gastroesophageal reflux problems
- Surgery:
- To repair heart defects
- Regular Medical Monitoring:
- To monitor health problems and ensure the best possible treatment
Prognosis:
Life expectancy for people with Williams Syndrome is generally normal as long as they receive appropriate medical care. With monitoring and treatment, most people with the syndrome can lead full and productive lives.
