Williams syndrome is a rare genetic disorder that results in a broad mouth, tiny jaw, little teeth, big ears, tilted noses, full cheeks, and epicanthal folds at the eyes.
Williams syndrome, often called Williams-Buren syndrome, is a rare, neurodevelopmental, genetic illness that is marked by a wide range of symptoms, such as unusual physical characteristics, delayed development, mental difficulties, and abnormalities of the heart. Williams syndrome can result in stunted development in children, and most affected adults are shorter than usual. Williams syndrome can also result in endocrine issues including early puberty, an underactive thyroid, and having too much calcium in your blood and urine.
Who Does Williams Syndrome Affect?
Williams syndrome often develops when a tiny bit of chromosome 7 is missing. Most people with Williams syndrome did not get it from a parent. Williams syndrome sufferers have a 50% probability of passing the disease on to their offspring.
Williams syndrome is a rare illness that affects around 1 in 10,000 babies born in the US.
How Does Williams Syndrome Affect My Child?
Due to their illness, your kid may experience difficulties as they mature, but with early intervention and therapy, they can achieve their full potential. Children may be born with heart or blood vascular congenital abnormalities that occasionally require surgery to be corrected. To maintain the health of their kidneys, routine blood and urine tests will be required. Due to their lax joints, they frequently sit and walk a little later than other kids. Strong verbal and communicative abilities in children, which can conceal cognitive delays frequently accompanies Williams syndrome. Delays in learning numbers and letters, differentiating between real and abstract, and understanding the distance between objects frequently accompanies Williams syndrome. Most kids with Williams syndrome have good long-term memory, although they might also have ADHD (ADHD).
Symptoms and Causes
What Causes Williams Syndrome?
Williams syndrome is brought on by a deletion, or missing piece, of a region on chromosome 7.
There are 23 pairs of chromosomes totalling 46 in human body. Each pair of our parents’ chromosomes has one copy that we receive from them. Genes are sections of DNA (genetic data) found within our chromosomes. Our genes provide the blueprint for how our bodies should be built and worked.
Williams syndrome patients lack a section of chromosome 7, which contains numerous genes. Your genes serve as the instruction handbook for your body, therefore, if you are lacking chromosomes, there aren’t enough pages in your guidebook to explain how chromosome 7 should work. Williams syndrome symptoms are brought on by the pages in your instruction manual that are missing.
There are a variety of symptoms that Williams syndrome might produce. The symptoms of Williams syndrome vary from person to person.
Williams Syndrome Signs and Symptoms Include:
- Chronic hearing loss or ear infections
- dental anomalies, such as tiny or missing teeth or a lack of enamel.
- elevated blood calcium levels.
- Hypothyroidism, early puberty, and adult-onset diabetes are endocrine disorders.
- Farsightedness.
- feeding issues throughout infancy.
- Scoliosis (curve of the spine) (curve of the spine).
- issues with sleep.
- shaky walking (gait).
Numerous additional disorders outside Williams syndrome have many of the symptoms of Williams syndrome, which might result in multiple diagnosis.
Developmental delays
Williams syndrome symptoms can prevent kids from meeting developmental milestones, or tasks that kids should be able to perform by a given age. Developmental milestones reveal your child’s ways of learning, thinking, speaking, playing, moving, and behaving. Milestones like can be delayed by Williams syndrome.
- Learning (mild to moderate intellectual problems) (mild to moderate intellectual challenges).
- chatting and using their first words.
- From a low body tone, sitting, and walking (hypotonia).
- Socializing (outgoing and highly friendly, trouble identifying strangers, concentration issues, excessive empathy, phobias, or anxieties) (outgoing and very friendly, difficulty identifying strangers, attention problems, excessive empathy, phobias, or anxiety).
Serious Symptoms
Cardiovascular illness is one of the most significant signs of Williams syndrome. Various blood arteries close to the heart frequently narrow during fatal development, a condition known as stenosis, which can raise blood pressure, cause arrhythmia (irregular heartbeat), and eventually cause cardiac failure. One of the first indications that your kid may have Williams syndrome is frequently cardiac involvement.
Physical Characteristics
Unique physical traits, such as full cheeks, that are present at birth are an indication of Williams syndrome.
- enormous ears
- noticeable lips
- little height.
- little jaw.
- turned-up nose.
- Vertical skin folds (epicanthal folds) cover the inner corner of the eyes.
- broad mouth
Diagnosis and Tests
Usually, the problem is discovered while your child is a baby or very young in life. The physical examination of your kid will be followed by a genetic test, which is a blood test that looks for gene changes, if your child’s doctor believes that they have Williams syndrome.
Your healthcare physician may frequently request more tests to verify the diagnosis and evaluate the condition’s symptoms. Other testing consists of:
- A heart ultrasound or EKG is used to examine the heart for abnormalities.
- Check for any anomalies in your child’s blood pressure.
- To find kidney symptoms in your child, test a sample of their blood or urine.
Management and Treatment
Your healthcare practitioner will collaborate with the proper experts, notably a genetic counsellor, to support explain the diagnosis to the person and their family if they have been diagnosed with Williams syndrome based on physical findings and/or a positive genetic test result.
Based on the diagnosis, your doctor will talk to you about recommended treatments for your illness. Williams syndrome has no known treatment; therefore, it is critical to recognize and manage any potential adverse effects. Treatments and interventions must be based on each person’s specific requirements, such as:
- getting a cardiologist to do a formal examination. If an issue is discovered in your
- The cardiologist will choose the best course of action for the child’s heart.
- enrolling in therapies, special education, or early intervention programs to
- Ease learning issues or developmental delays.
- Seeing a nephrologist or dietician to address high blood calcium levels.
- As needed, seeing a professional to handle any other symptoms.
Prevention
How Can I Reduce My Risk Of Having A Child With Williams Syndrome?
There is often no method to avoid Williams syndrome since it is a genetic disorder brought on by a chromosomal alteration rather than acquired from a parent. Consult your healthcare practitioner about genetic testing if you intend to get pregnant and want to know the potential hazards of giving birth to a child who has a genetic disorder.
Outlook / Prognosis
What Can I Expect If I Have A Child With Williams Syndrome?
There are treatments for Williams syndrome, but there’s no cure. The first step in receiving a diagnosis is to seek medical attention from your healthcare practitioner. Thereafter, make any necessary specialist appointments to treat any symptoms or side effects. Most Williams syndrome sufferers live normal lives, although some may live shorter lives because of the disease’s consequences (such as cardiovascular problems). As they mature into adulthood, persons with Williams syndrome may require more assistance.
Living With
How Do I Take Care Of My Child With Williams Syndrome?
It is vital to give your child all the love and support you can if they are diagnosed with Williams syndrome. They’ll probably need to arrange routine appointments with their doctor and other experts to handle any potential problem symptoms, including any cardiovascular adverse effects. If your kid encounters difficulties in the classroom, they may need to register in a special education program. As your child develops and acclimates to the world around them at their own rate, have patience with them.
When should I see my healthcare provider?
You ought to take your kid to the doctor if they:
- omit developmental benchmarks.
- have frequent ear infections or exhibit hearing loss.
- Have a hard time eating.
When should I visit the ER?
Visit the emergency department right away if you see any heart (cardiovascular) illness symptoms in your child. Cardiovascular disease symptoms include:
- Skin tone or lip colour, that is blue or purple.
- rapid breathing
- eating difficulties.
- rapid heart rate.
- Their entire body swelled.
What questions should I ask my doctor?
- Does my child require medical attention for any Williams syndrome symptoms?
- Will my future offspring get the same genetic problem if I get pregnant?
- Do I need to give my child any medicine to treat their symptoms?
A note from Cleveland Clinic
Williams syndrome is not spreadable, but your child’s amiable, outgoing nature is contagious. Always provide your child with support because a new diagnosis might be frightening. Some people discover that talking about their queries or worries with professionals, people who have Williams syndrome themselves, or parents of Williams syndrome sufferers may be helpful.
Conclusion:
Williams syndrome is a rare genetic disorder that affects around 1 in 10,000 babies born in the US. It results in a wide range of symptoms, including unusual physical characteristics, delayed development, mental difficulties, and abnormalities of the heart. Children with Williams syndrome may experience difficulties as they mature, but with early intervention and therapy, they can achieve their full potential. It is caused by a deletion or missing piece of a region on chromosome 7, which contains numerous genes that serve as the instruction handbook for the body.
Last word from the author:
“Milestones like can be delayed by Williams syndrome symptoms, but with early intervention and therapy, children with Williams syndrome can achieve their full potential.”
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