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According to Williams Syndrome Foundation, Williams syndrome affects around 1 in every 18,000 people in the United Kingdom, which makes it rare. It isn’t very well known and only 1 in 30 GPs will ever see someone who has the condition in their career.
This is a congenital and non-hereditary disorder that is characterised by a range of learning difficulties and distinctive facial features.
What is Williams syndrome?
Also called Williams-Beuren syndrome, Williams syndrome is a neurodevelopmental condition caused by a microdeletion in chromosome 7. Individuals with the condition can have a range of symptoms, which include developmental delays, cardiovascular abnormalities, and cognitive challenges. Generally, children have poor growth, which causes shorter than average stature in adulthood. There can also be endocrine issues like early puberty, too much calcium in the urine and blood, and an underactive thyroid.
Those with Williams syndrome (WS) are often highly sociable and friendly. Males and females are affected equally and it occurs worldwide in all cultures.
Who does Williams syndrome affect?
Williams syndrome affects 1 in 18,000 people randomly. It is a genetic mutation and most people haven’t inherited it from their parents. However, those diagnosed with the condition have a 50% chance of passing it on to their own children.
Males and females are affected equally by Williams syndrome and it also occurs in individuals of all ethnic backgrounds.
If there is a concern about Williams syndrome (if a parent already has a child with the condition, for example), then prenatal testing can be carried out in future pregnancies. Tests like amniocentesis or chorionic villus sampling (CVS) can diagnose Williams syndrome in utero.
What causes Williams syndrome?
The human body has 46 chromosomes, which are arranged in pairs. One copy of each chromosome pair comes from the mother, the other from the father. Inside these are genetic information—parts of DNA called genes. These are like an instruction manual that tell the body how to develop and function.
Williams syndrome is caused by a spontaneous deletion of genetic material from a specific area (26-28 genes) of chromosome 7. This deletion occurs in a region called 7q11.23. This missing genetic material includes multiple genes, which contribute to the features and symptoms of the condition. This deletion occurs at the time of conception and occurs in either the egg or sperm. With missing genetic material from chromosome 7, it’s like the body is missing a few pages from its instructions. This means the body doesn’t know how chromosome 7 works, which causes Williams syndrome symptoms.
What are the symptoms of Williams syndrome?
Williams syndrome has various symptoms that range in their presentation and severity. Not everyone with the condition will experience the same symptoms.
Here are some of the possible symptoms:
- Hearing loss
- Chronic ear infections
- Dental abnormalities (small teeth, missing teeth or poor enamel)
- Elevated calcium in the urine or blood
- Early puberty
- Diabetes (in adulthood)
- Poor feeding in infancy
- Sleep problems
- Unsteady walk/poor gait
- Scoliosis (curvature of the spine)
- Cardiovascular disease (high blood pressure, arrhythmia, cardiac failure)
Besides physical problems, most people with Williams syndrome also have developmental delays. They might reach their childhood developmental milestones late; for example, sitting, speaking and movements. They might be delayed in their learning; this can range from mild to moderate challenges. They may also experience hypotonia (low body tone). Individuals with Williams syndrome also have social differences. They are often very friendly and outgoing but might display anxiety, excessive empathy or develop phobias.
Physical signs of Williams syndrome
Besides the medical and behavioural symptoms, those with Williams syndrome often have distinct facial characteristics. These include:
- Large ears
- Prominent lips
- Full cheeks
- A wide mouth
- A small jaw
- Short stature
- An upturned nose
- Epicanthal folds (vertical folds of skin covering the inner eye corner)
Living with Williams syndrome
Those with Williams syndrome will usually face challenges but with intervention and treatment, they can live full and happy lives. Children born with congenital defects might need surgery or regular blood tests, for example.
You’ll often find children with Williams syndrome to have good communication and verbal skills. This can sometimes hide delays in their cognitive abilities. They might struggle to learn letters and numbers, for instance, or they might find it challenging to differentiate between something that’s abstract or real.
Most children who have Williams syndrome find they have an excellent memory but a lot also have attention-deficit/hyperactivity disorder (ADHD).
When a family receives a diagnosis of Williams syndrome, it can be daunting. They will likely need regular trips to specialists for check-ups. They might also need assistance with their education and may need to attend specialist provision.
Adulthood with Williams syndrome
Many adults with Williams syndrome are employed or volunteer. Many individuals with Williams syndrome have strengths that make them valuable employees. Usually, those with the condition excel in jobs that involve social interaction. Their excellent social skills, friendliness and empathy make them suited to jobs in sales, retail, customer service and hospitality. Many with a keen eye for detail take on roles in data entry, quality control, arts and crafts. Since many thrive with routine, there are also plenty of people with Williams syndrome working in assembly lines and manufacturing.
How is Williams syndrome diagnosed?
There are usually two parts to diagnosing Williams syndrome. Firstly, there will be a clinical diagnosis based on a range of characteristics that are commonly present in Williams syndrome. The clinical features looked for include:
- Distinctive facial features (these may be subtle in infancy)
- Congenital heart defects (particularly peripheral pulmonary artery stenosis and supravalvular aortic stenosis (SVAS))
- Raised urine/blood calcium levels
- High blood pressure
- Inguinal hernias
- Failure to thrive or slow growth
- Gastrointestinal problems and feeding issues (reflux, colonic diverticular, rectal prolapse)
- Short stature
- Endocrine abnormalities
- Musculoskeletal problems like scoliosis
These will be investigated through various mechanisms like radiology tests, thyroid function tests, blood tests, etc. If Williams syndrome is suspected clinically, it will be confirmed by genetic testing.
Characteristics of Williams syndrome seen in infancy
A lot of people with Williams syndrome are diagnosed as babies. The main characteristics present during infancy will give an indication to medical professionals. Here are some common signs for babies with the condition:
- Feeding problems
- Often born post-term
- Prolonged colic
- Chronic constipation
- Hyperextensible joints
- Chronic otitis media
- Failure to thrive
Genetic tests to confirm the presence of Williams syndrome
There are two types of genetic tests that will determine whether or not an individual has Williams syndrome. These are the FISH and the microarray tests.
FISH test for Williams syndrome
The FISH (fluorescent in situ hybridisation) test will show a deletion at 7q11.23. FISH involves a specialised chromosome analysis using elastin probes. If a patient has two copies of the elastin gene on their 7th chromosome (the gene affected by Williams syndrome), then they don’t have the condition. If only one copy can be found, a diagnosis will be given for Williams syndrome.
The test uses 5 ml of blood that has been drawn into a sodium heparin tube. The results usually come back within 4 weeks, if not sooner.
The microarray test for Williams syndrome
This is a newer and often preferred diagnostic test for Williams syndrome. It uses millions of different markers that show if there are any extra or missing pieces of DNA in a person’s chromosomes. This test takes longer but it gives clinicians more information about what is missing exactly. You can find out the deletion size, for example, and which genes are contained within the deletion. This can provide clues to the severity of the problem and its likely characteristics.
How is Williams syndrome treated?
Almost all people with Williams syndrome benefit from some sort of therapy to overcome issues associated with the condition. This depends on the individual presentation and symptoms associated with the condition.
Here are some of the types of therapies and interventions you can expect:
Children who have Williams syndrome will often have poor muscle tone (hypotonia) and problems with balance. Physiotherapy helps with gross motor skills as well as developing muscle tone, strength and the range of motion in joints.
Children who have Williams syndrome will often have deficits and difficulties with fine motor skills. They may find it more challenging to pick up small objects, for example. Occupational therapy can help address fine muscle control. It can also help with oversensitivity to different textures as well as feeding issues.
Speech and language therapy
Children who have Williams syndrome often have speech and language delays. Some of this is caused by poor muscle tone that affects articulation. When speech is present, there are still often difficulties with information processing. A speech and language therapist can work with children to develop these skills.
There is a pronounced affinity for music with many children with Williams syndrome. It is common to see them reduced to tears by moving music or feel perturbed by minor chords, for example. Those with Williams syndrome often have an excellent sense of rhythm and an astounding ability to remember lyrics. As such, music therapy can be used to great value.
Other therapies and treatments
Due to the wide range of symptoms associated with the condition, people with Williams syndrome will have a unique set of needs that are individual to them. As such, they may require additional therapies to support them. This might include animal therapy or water-based therapy, for instance.
Here are some areas of support children with Williams syndrome might need:
- Cardiac evaluation: Heart defects are common and so most children will have a cardiac evaluation upon diagnosis.
- Nutritional Support: This will help with any feeding issues.
- Nephrology Support: To treat elevated blood calcium levels.
Williams syndrome prognosis
There is no cure for Williams syndrome but there are many treatments to manage its symptoms. In terms of education, most children with Williams syndrome will require additional support in their schooling. They might require a lot of 1:1 time for learning as well as other support with peer relationships, anxiety and behaviour. Since Williams syndrome is rare, there is no specific support available but they might benefit from similar support to children with Autism Spectrum Disorder or Down Syndrome.
Depending on the severity of the condition, a child with Williams syndrome might attend a special school. Some will be able to attend mainstream, at least for primary school, but will likely need SEN support through an Education, Health and Care Plan (EHCP).
In adulthood, many adults with Williams syndrome do manage to live independent lives and work. As adults, the average height of females is 5ft and 5ft 6in for males. Premature ageing is common. As adults, those with WS will need care for existing problems like cardiovascular abnormalities, hypertension, renal issues, gastrointestinal issues, joint problems, etc.
Around 3% of those with WS have an IQ within the normal range. However, most have learning difficulties of varying degrees. Like many adults with learning difficulties, those with Williams syndrome are socially vulnerable. This is exacerbated by their over-friendliness.
All in all around 40% of adults with Williams syndrome live in some sort of sheltered accommodation with 50% living with their parents in adulthood. Very few do live alone and independently.
Final thoughts on Williams syndrome
Receiving a diagnosis of Williams syndrome for a child can be daunting and will take some getting used to. However, the condition is not life-threatening or life-limiting and most people go on to live full and happy lives. Like any condition, those with Williams syndrome have unique presentation and characteristics, which means that it is difficult to predict what their life will be like as adults. Seeking support from charities like the Williams Syndrome Foundation can help people to navigate life following diagnosis.