Williams-Beuren Syndrome – Causes, Symptoms & Treatment

Williams-Beuren Syndrom

John CP Williams (born 1922), a heart specialist from New Zealand, and the first German chair of pediatric cardiology, Alois Beuren (1919-1984), were the first physicians to describe the Williams-Beuren syndrome , which is named after them, in the early 1960s . WBS is a genetic defect that has a significant impact on the internal organs, particularly the heart, and the physical appearance of those affected. A misdirection of social behavior is also characteristic.

What is Williams-Beuren Syndrome?

How many children are born with Williams-Beuren syndrome has not yet been conclusively researched. The disease, which affects girls as well as boys or men and women equally, is rare. According to preliminary estimates, the probability of having WBS in newborns is 1 in 7,000 to 1 in 50,000.


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

Chromosome 7 contains 1000 to 1500 genes. The root cause of WBS is a corresponding malformation in the sperm or egg cell. The WBS arises from the involvement of such a maldeveloped germ cell during fertilization.

Symptoms, Ailments & Signs

The symptoms of WBS are diverse and occur in different combinations in those affected. WBSers often have small heads with pursed lips, hypoplastic “mouse teeth” and “bunny noses”, pillowy upper lid regions, and other rounded facial features.

These “funny face” appearances created terms such as “goblin faces” or “elf children” that are only rarely used today in connection with the WBS. In addition to weak muscle tension, short stature , blue iris discoloration, ametropia and toe and finger malpositions, impairments of internal organs are also typical of WBS. These include heart defects , elastin deficiency-related narrowing of the blood vessels, high blood pressure , kidney and lung problems.

Elongated neck areas, an overly narrow chest and sloping shoulders are also typical. WBS sufferers typically have below- average intelligence . In return, they often have insular talents (excellent memory, perfect pitch). The American Gloria Lenhoff, for example, became famous as a lyric soprano with a repertoire of 2000 arias in 30 languages.

The gentle, peaceful, often helpful and empathetic WBSers are extremely talkative, curious and sociable to the point of lack of distance. Their language skills and friendly curiosity make them appear intelligent at first, although they have low IQs and don’t know the meaning of many of the terms they use. This abnormality is referred to as “Cocktail Party Manner”.

However, WBSers are also prone to depression , phobias and panic attacks . A special feature is the low reaction of WBS sufferers to situations determined by angry people. Confrontations with extreme situations without people, such as volcanic eruptions or burning buildings, on the other hand, trigger panic among those affected by WBS.

The trigger for this different intensity of non-social and social anxiety in those affected compared to those not affected by WBS goes back to a change in the brain region known as the amygdala.

Diagnosis & disease progression

Williams-Beuren syndrome, which is caused by gene loss, can be diagnosed at an early stage using a chromosome analysis called a “FISH test” ( fluorescence in situ hybridization test ). In this rapid cytogenetic test, a special dye associated with a blood sample only marks complete chromosomes.

In the 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 during amniotic fluid extraction , it is not used regularly in this phase.

This is why WBS often goes undetected in infants and young children for a long time. Especially since the Apgar test, which is often used in newborns, is not designed for the rare and largely unknown WBS. WBS is usually noticed late because of certain behavioral problems . A laboratory analysis of the blood for the presence of hypercalcemia (excess calcium) also provides evidence of possible WBS .


The typical malformations make the Williams-Beuren syndrome a very complication-prone disease. Growth retardation occurs during pregnancy. 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 off to the side. In addition, misalignments of the toes can occur, causing unsteady gait and poor posture in the affected children. In the area of ​​​​the internal organs, cardiac arrhythmias, high blood pressure and heart palpitations can occur.

If the course is severe, heart failure occurs as a result of the narrowing of the aorta. People with WBS also have an increased risk of kidney defects. A malfunctioning kidney can lead to various symptoms and sometimes life-threatening complications. Children with Williams-Beuren syndrome also often suffer from swallowing difficulties, sleep disorders and developmental delays, each associated with various physical and psychological complications.

Scoliosis, i.e. a curvature of the spine, can occur in old age. Surgical treatment of malpositions is associated with the typical risks. Due to the often lifelong administration of medication, side effects and interactions as well as late effects cannot be ruled out.

When should you go to the doctor?

The “Williams-Beuren Syndrome” is a disease that manifests itself in the form of a developmental disorder with heart defects. This is caused by a gene mutation on one of the two chromosomes number 7 and is therefore already present at birth. However, the frequency is around 1:20,000 people 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, among other things: a broad forehead, a flat bridge of the nose that ends in a spherical tip of the nose, protruding cheekbones, a large mouth, heavy eyes (upper eyelid edema), a short eyelid cleft and a star-shaped drawing on the iris of both of them Eyes.

Affected people often have deficits in three-dimensional vision, are sensitive to noise and can be prone to tooth decay. Furthermore, serious malformations of the vessels can exist. A doctor should be consulted if the symptoms limit the sufferer.

People who are affected by the syndrome often have a special sense of rhythm and are therefore often musically talented. Some affected children are also very lexically inclined and learn to read before normal children do. They also find it easy to communicate verbally and are considered to be very sociable. Despite all of this, those affected by “WBS” are dependent on the help of others their entire lives.

Treatment & Therapy

After puberty, WBS sufferers often, but not necessarily, become listless after a childhood marked by hyperactivity . The WBS itself has no direct impact on the life expectancy of those affected. However, the impairment of organs caused by WBS can shorten life. A causal healing of the gene defect WBS is not possible. The WBS therapy must therefore be limited to treating the symptoms.

Treating WBS-related symptoms can significantly improve quality of life. In this regard, treatments for common heart defects and eye deformities can be considered. Special diets can bring the WBS-typical hypercalcemia under control. Regular blood pressure checks are also indicated. Due to their numerous deficits, people affected by WBS are dependent on support in daily life throughout their lives.

Intensive supportive measures ( occupational therapy , music support), which start in the early stages of infancy, play an important role for children with Williams-Beuren syndrome who are consistently developmentally retarded. A consistent education in observing social rules is also part of the life support of the WBSler, who like to approach other people without being asked.

Many WBS students can follow the lessons at an integrative primary school, others are overwhelmed and need special educational instruction. WBSers almost always have a fulfilled life with their families and with the help of specialist offers.


Prevention of Williams-Beuren syndrome is not possible because of the nature of this phenomenon as a spontaneous gene mutation. Since there is a 50% chance of inheriting WBS in pairs of parents in which one or both partners suffer from WBS, the ethically controversial approach of preventing those affected from having WBS is sometimes discussed.


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

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

In addition, they can exchange opinions and experiences with people who are equally ill and do not feel alone. It could also be helpful to give the child permanent psychological counselling. A psychologist can also teach the sufferer how best to deal with the disease. It is imperative that you make regular visits to the doctor.

Since secondary diseases can occur later in life as a result of the disease, visits to the doctor should continue into old age. Those affected should choose a job that can be practiced with the disease. The choice should also be discussed with the respective doctor.

You can do that yourself

Williams-Beuren syndrome is associated with various symptoms and complaints. Many of the symptoms can be self-treated. Within the framework of physiotherapy and occupational therapy , the legal guardians are given measures that the child can carry out at home to alleviate the symptoms. The more comprehensive this early support is, the better the prognosis.

At the same time, the child must be informed about his or her illness. The right time for this depends on the child’s mental maturity and is best chosen in consultation with the responsible doctor. The affected child can be informed about his or her illness by means of suitable reading material or discussions with other affected persons. The feature film “Gabrielle – (K)eine quite normal love” documents the life of an affected person and can also be used for educational purposes.

Regular visits to the doctor are also an important part of self-help. The medical check-ups must be continued into old age, as other complaints such as scoliosis can occur in the course of life. Various lifestyle changes are also necessary, such as getting enough rest and choosing a job that can be carried out with the respective deformities and diseases. The necessary steps are discussed during a consultation with the specialist.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.