• Monday July 13,2020

Williams Syndrome

John CP Williams (born 1922), a New Zealand heart specialist, and Alois Beuren (1919-1984), the first German pediatric cardiology professor, described the Williams-Beuren syndrome named after them as the first physicians in the early 1960s. The WBS is a genetic defect that has significant effects on the internal organs, especially the heart, and the physical appearance of those affected. Also characteristic is a misconception of social behavior.

What is the Williams Beuren syndrome?

How many children are born with the Williams-Beuren syndrome is not yet fully understood. The disease affecting both girls and boys or men and women is rare. The likelihood of having HBS is 1: 7, 000 to 1: 50, 000 in newborns, according to preliminary estimates.


The disease is caused by the absence ("deletion") of a 23 or more units of genes on chromosome 7. In almost all cases, this deletion affects the important structural protein elastin. Among other things, elastin is crucial for the elasticity and strength of blood vessels.

Chromosome 7 contains 1000 to 1500 genes. WBS root cause is a corresponding malformation in sperm or egg. By involvement of such a malformed germ cell in fertilization, the WBS arises.

Symptoms, complaints & signs

The symptoms of the HIC are manifold and occur in those affected in different combinations. WBCs often have small heads with raised lips, hypoplastic "mouse teeth" and "bunny noses, " cushioned upper eyelids, and other rounded facial features.

These "Funny Face" appearances created in the context of the WBS today only little used terms such as "goblin faces" or "Elf children". In addition to weak muscle tension, short stature, iris blue coloration, ametropia and toe and finger malpositions, impairments of internal organs are typical for HBS. These include heart defects, elastin deficiency-related constrictions of the blood vessels, hypertension, kidney and lung problems.

Extended neck areas, an oversized rib cage and drooping shoulders are also typical. WBS sufferers usually have a below-average intelligence. In return, they also often have island gifts (excellent memory, absolute pitch). For example, the American Gloria Lenhoff became famous as a lyrical soprano with a repertoire of 2000 arias in 30 languages.

The gentle-peaceful, often helpful and empathic WBSlers are exceedingly talkative, curious and sociable to the point of distance. Their language skills and friendly curiosity make them seem intelligent at first, even though they have little IQ and do not know the meaning of many of the terms they use. This conspicuousness is referred to as the "Cocktail Party Manner".

But WBs are also prone to depression, phobias, and panic attacks. A special feature is the low response of WBS sufferers to situations determined by angry people. Confrontations with extreme situations without people such as volcanic eruptions or burning buildings cause panic among those affected by WBS.

The triggers for these different levels of non-social and social anxiety in people with WBS, compared to non-WBS sufferers, are due to a change in the amygdala brain region.

Diagnosis & disease course

The Williams-Beuren syndrome caused by gene loss can be diagnosed at an early stage by means of a "FISH-test" (fluorescence in situ hybridization test) called chromosome analysis. This cytogenetic rapid test only labels complete chromosomes to a special dye associated with a blood sample.

In case of gene loss, non-staining indicates the WBS. The test can also be performed prenatally. However, because of the risk factors associated with the test for the unborn child in the extraction of amniotic fluid, it is not used regularly at this stage.

Therefore, WBS often remains unrecognized in infants and toddlers for a long time. Especially as the neonatal often used Apgar test is not designed for the rare and widely unknown WBS. In most cases, WBS is late for certain behavioral problems. Evidence of a potential WBS also allows for laboratory analysis of the blood for the presence of hypercalcaemia (excess of calcium).


The typical malformations make the Williams-Beuren syndrome a very complicated disease. Already during pregnancy growth delays occur. After birth, poor posture, neurological deficits and other complications occur as a result of the low muscle tension.

A typical secondary disease is the so-called clinodactyly, in which the little fingers are bent sideways. In addition, deformities of the toes can occur that cause in the affected children gangs uncertainty and poor posture. Among other things, cardiac arrhythmia, high blood pressure and heart piercing can occur in the area of ​​the internal organs.

In a severe case, it comes as a result of the aortic constriction heart failure. In people with WBS, the risk of renal failure is also increased. A disturbed kidney can lead to various complaints and sometimes to life-threatening complications. In addition, children with Williams-Beuren syndrome often suffer from dysphagia, sleep disturbances, and a developmental delay, each associated with various physical and mental complications.

At a higher age scoliosis, ie a spinal curvature can occur. An operative treatment of the malpositions is associated with the typical risks. Due to the often lifelong administration of medication, side effects, interactions and long-term effects can not be ruled out.

When should you go to the doctor?

The "Williams-Beuren syndrome" is a disease that manifests in the form of a developmental disorder with heart failure. This is due to gene mutation on one of the two chromosomes number 7 and is therefore already present at birth. However, the incidence is approximately 1 in 20 000 affected, which is why a prenatal (prenatal) examination rarely seems necessary.

There are a variety of symptoms that can occur in "WBS" patients. This includes in particular the formation of characteristic facial features. These include: a broad forehead, a flat nasal bridge ending in a spherical nose, prominent cheekbones, a large mouth, heavy eyes (upper eyelid edema), a short eyelid and a star-shaped drawing on the iris of the two Eyes.

Affected persons often have deficits in spatial vision, are sensitive to noise and may be prone to tooth decay. Furthermore, serious malformations of the vessels can exist. A doctor should be consulted if the symptoms limit the person concerned.

People affected by the syndrome often have a particular sense of rhythm and are therefore often musically gifted. Some affected children are also very lexical and learn to read even before the regular children do so. Also in verbal communication, they are easy and are considered very outgoing. Despite all this, "WBS" sufferers are dependent on the help of others all their lives.

Therapy & Treatment

After puberty, WBS sufferers are often, but not necessarily, depressed after a childhood of hyperactivity. The WBS itself has no immediate impact on the life expectancy of those affected. Life-shortening, however, can be the impairment of organs caused by WBS. A causal cure of the gene defect WBS is not possible. Therefore, WBS therapy must be limited to the treatment of symptoms.

Treating WBS-related symptoms can significantly improve the quality of life. In this regard, treatments for common heart defects and ocular malformations may be considered. Special diets can control WBS-typical hypercalcaemia. Shown are also regular blood pressure checks. Because of their many shortcomings, WBS sufferers are dependent on support in their daily lives throughout their lives.

In this context, intensive promotion measures (occupational therapy, music promotion), which already begin in the infant stage, play an important role for the consistently developmentally delayed children with Williams-Beuren syndrome. Also a consistent education for observance of social rules of the WBSler who likes to approach other people without being asked is part of the life support.

Many WBS students can follow lessons at an integrative elementary school, others are overwhelmed and need special special education. WBSLs almost always have a fulfilling life in the circle of their families and with special offers.


Prevention of Williams-Beuren syndrome is not possible because of the nature of this phenomenon as spontaneous gene modification. Since the WBS is inherited with 50% probability in parent pairs where one or both partners have a WBS, the ethically controversial approach of preventing WBS sufferers from conceiving offspring is sometimes discussed.


The Williams-Beuren syndrome is an incurable disease that is treated only symptomatically. Many of these symptoms can be treated by sufferers themselves. To alleviate the discomfort, parents should allow gymnastics and occupational therapy with the ill child. There parents can then learn many methods to treat the child from home and relieve the discomfort significantly.

In addition, the child should be sufficiently informed by the respective doctor about his illness. But this should only happen if the child has a decent age and maturity. It is also helpful to register the child with a self-help group. There it can learn how it can deal with the disease permanently.

In addition, it can exchange opinions and experiences with people who are equally ill and does not feel alone. It could also be helpful to give the child ongoing psychological counseling. A psychologist can also teach the sufferer how best to deal with the disease. The regularly scheduled doctor visits should be performed imperatively.

As subsequent illnesses can occur in the later life of the illness, the doctor's visits are to be perceived into old age. Affected persons should choose a profession that can be practiced with the disease. The choice should also be discussed with the respective doctor.

You can do that yourself

The Williams-Beuren syndrome is accompanied by various symptoms and complaints. Many of the symptoms can be treated by yourself. As part of physiotherapy and occupational therapy, the guardians are called measures that the child can perform at home to relieve the symptoms. The more comprehensive this early intervention fails, the better the prognosis.

Accompanying this, the child must be informed about his illness. The right time for this depends on the mental maturity of the child and is best chosen in consultation with the responsible physician. The affected child can be informed about his illness by means of suitable reading or conversations with other affected persons. The feature film "Gabrielle - (K) a normal love" documents the life of a person and can also be used for educational purposes.

An important part of self-help is also the regular doctor visits. The medical check-ups have to be continued into old age, because during the course of life further complaints such as scoliosis can occur. Various changes in lifestyle are also necessary, such as sufficient rest and the choice of a profession that can be performed with the respective malformations and diseases. As part of a consultation by the specialist, the necessary steps are discussed.

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