The Williams Syndrome

The Williams Syndrome

  Autor Camelia Lazar, Presedinta Asociatiei Williams Syndrome Romania Data: 16.06.2006

The Williams Syndrome
Williams syndrome is a rare genetic condition (estimated about 1 per 7500 births) which leads to development and health issues. This was first recognized as a specific entity in 1961. 

This is present at birth and affects both males and women equally, and might be present in ethnic, social groups in any world population. 

The common features of Williams syndrome (WS) 
  • Characteristic facial appearance 
  • Heart and blood vessel problems 
  • Hypercalcemia (elevated blood calcium levels) 
  • Low birth-weight / low weight gain 
  • Feeding/ alimentation problems 
  • Irritability (colic during the first year of life) 
  • Dental abnormalities 
  • Kidney malformations/ abnormalities 
  • hernias, 
  • Hyperacusis (sensitive hearing) 
  • Musculoskeletal problems 
  • Overly friendly (excessively social) personality 
  • Developmental delay, learning disabilities and concentration problems (attention deficit). 
1. Characteristic facial appearance 
Most young children with Williams syndrome have similar facial features. These features which tend to be recognized by geneticists or birth defects specialists, include a small upturned nose, long philtrum (long upper lip), wide mouth, full lips, small chin, and small bumps (pads) around the eyes. Facial features become more accentuated with age. 

2. Heart and blood vessel problems 
Most people with Williams syndrome have some type of heart and/ or blood vessel problems. The most frequent is the narrowing of the aorta (leading to SVAS - supravalvular aortic stenosis), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from light to severe (the last ones require surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure in time, periodic monitoring of cardiovascular system is necessary. 

3. Hypercalcemia (elevated blood calcium levels) 
Some children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is still unknown. When hypercalcemia is present, it can cause intense irritability or "colic-like" symptoms. Sometimes a special diet or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but the abnormality in calcium or Vitamin D metabolism may exist and should be monitored lifelong. 

4. Low birth-weight / low weight gain 
Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Another problem in the first years of life is the slow weight gain ("failure to thrive"). Adult stature is slightly smaller than average. 

5. Feeding/ alimentation problems 
Many children with SW have feeding problems. These problems are related to low muscle tone, severe choking reflex, poor sucking, difficult swallowing, exaggerated reactions to tactile stimuli. Feeding difficulties tend to resolve as the children get older. 

6. Irritability (colic during the first year of life) 
Many infants with SW have a longer period of colic, thus being more irritable. Usually this lasts up to 10 months of age, then resolves. Colic is sometimes attributed to hypercalcemia. Also, they can determine sleep disorders (falling asleep and maintaining it during the night). 

7. Dental abnormalities 
Small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion, tooth shape or appearance. Most of these abnormalities can be corrected with orthodontic methods. 

8. Kidney abnormalities/ malformations 
There is a slightly increased frequency of problems with kidney structureand/or function.

9. Hernias 
Inguinal and umbilical hernias are more common in people with Williams syndrome than in the rest of population. 

10. Hyperacusis (sensitive hearing) 
Children with Williams syndrome often have more sensitive hearing than other children. Certain frequencies or noise levels can be painful or can frighten them. This condition usually improves with age. 

11. Musculoskeletal problems 
Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness may develop. Physiotherapy is recommended for improving the muscle tone and the joint motion range. 

12. Over- friendly/ social personality 
Individuals with Williams syndrome have a very endearing personality, with special abilities regarding the language and they are extremely polite. Children are not usually afraid of strangers and show a greater interest for adults than for children of same age. 

13. Developmental delay, learning disabilities and concentration problems (attention deficit). 
Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays; certain stages of psychomotor development such as walking, talking and toilet use are often achieved later than is considered normal. Lack of concentration ability is a common problem in mid-childhood, which tends to get better as the children get older. Older children and adults often have a series of intellectual skills and limitations ("strengths and weaknesses"). There are some performance areas (such as speech, long term memory, and social skills) while other areas (such as fine/ specific motor movements and spatial- visual coordination) are significantly deficient. 

Source: the article is taken and translated with Williams Syndrome Association - USA approval. 






Read the English version of this article: The Williams Syndrome