Posted on

Williams Syndrome: Causes, Symptoms, Common Features and Treatment

Williams Syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder that is present at birth. The condition can affect anybody, and is known to occur equally in both females and males, and in every culture. WS causes numerous medical issues including cardiovascular disease, musculoskeletal problems, delays in development, and learning disabilities. These often occur side by side with highly social personalities, striking verbal skills, and a fondness for music.

Williams Syndrome: Extraordinary Gifts, Unique Challenges

May is Williams Syndrome Awareness Month

What Causes Williams Syndrome?

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome. Accordingly, the deletion is present at the time of conception. It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals. – Williams Syndrome Association

Signs and Symptoms of WS

Signs and symptoms of Williams Syndrome can vary, but generally include:

  • a distinctive facial appearance;
  • mild to moderate intellectual disability;
  • a unique personality that combines over-friendliness and high levels of empathy with anxiety.

People with WS typically have difficulty with tasks such as drawing and assembling puzzles. They tend to do well on tasks that involve spoken language, music, and learning by repetition. They also often have very outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common. Learn more

Common Features of WS include:

  • Characteristic facial appearance
  • Heart and blood vessel problems 
  • Hypercalcemia (elevated blood calcium levels) 
  • Low birth-weight / slow weight gain 
  • Feeding difficulty (generally limited to the early years) 
  • Irritability (colic during infancy) 
  • Dental abnormalities 
  • Kidney abnormalities 
  • Hernias 
  • Hyperacusis (sensitive hearing) 
  • Musculoskeletal problems 
  • Overly friendly (excessively social) personality 
  • Developmental delay, learning challenges and attention deficit disorder

Treatment Options for Williams syndrome

There is currently no cure for Williams syndrome, and no known way to prevent it.

Treatment is usually based on the individual’s symptoms, and involves easing the symptoms connected to the condition. There is no standard protocol. Management may include:

  • Feeding therapy for infants with feeding problems
  • Early intervention programs and special education programs for children with varying degrees of developmental disabilities
  • Behavioral counseling and/or medications for attention deficit disorder and/or anxiety
  • Surgery for certain heart abnormalities
  • Medications or diet modifications for hypercalcemia
  • Orthodontic appliances or other treatments for malocclusion of teeth
  • Gonadotropin-releasing hormone agonist for early puberty
  • Learn more

Regular cardiovascular checkups are necessary to monitor and track any potential problems.

Narrowed blood vessels can be treated if they cause symptoms, physical therapy and speech therapy can also be beneficial.

Medical conditions can affect the lifespan of those with Williams syndrome.

Visit the sources below for more in-depth information.


*All information/posts on this blog is published for general information and educational purposes only. Arms of Mercy NPC and the website will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.

Posted on

Fundraising for Logan Clarke – Pierre Robin Syndrome, Williams Syndrome

Logan Clarke

Logan`s story:

Logan Clarke was only 14 months old when he was diagnosed with Pierre Robin Syndrome – a syndrome that usually affects the face and formation of bones, mouth and throat. He sometimes struggles to calm down and all that can calm him is certain people and music, he lives for music.

Shortly thereafter, at 15 months, a “tongue tie” operation was performed where the little skin under the tongue was cut off to enable him to drink better, but it was found that his tongue was enlarged at the back which made him feel nauseous all the time. With the sinus that he also has (narrowed airways), it has been difficult for him during feeding as he choked all the time. At times he would turn blue from one sip of milk, even his own spit.

All his milestones were delayed, he struggled to eat, and refused to continue the moment he started choking. A chromosome test (Fish test) was done by the Pediatrician which showed that Logan has Williams Syndrome (WS).

WS has been found to be the opposite of autism in many ways, but has many of the same symptoms and behavioral tendencies. Logan is just over-friendly and very social. He can say words which is a blessing, as many children with WS are “non verbal” up to the age of 10 and older.

He was sent for, and still has to do many tests. One of these was an “echo” where they found a stenosis (such as a narrowing in his descending aorta). He did a barium swallow, where they found an obstruction in the throat and also a vascular ring that presses against a vein which causes his own body to “strangle” him.

During an operation they discovered more veins running in places which were never picked up on scans. Logan has to go for another heart surgery where the stenosis and a bypass of these veins must be relayed, and is awaiting a date. Meanwhile, for the rest of his life, there is a chance that he could have stenosis all over his body, very serious heart conditions are linked to WS. He still has unexplained stomach pain and nothing can be done about it.

Logan will be depended on someone to take care of him for the rest of his life. He suffers from anxiety attacks, and has OCD and ADSD.

Please support our bracelet initiative to raise funds for Logan, your contribution will give him a chance at a better quality life.

Alternatively, please consider a donation. Any and all donations welcome. REF: Logan Clarke.

Fundraising for Logan Clarke

Musical Motivation Bracelets

Musical Motivation Bracelets for Logan; consisting of royal blue and silver wooden beads with crystal, silver and diamante fillers.

Charm options: Diamanté Musical Note / Heart / Anchor.

To place and order, contact the agent in your area or shop online.

Musical Motivation Bracelets © Arms of Mercy NPC
Musical Motivation Bracelets

Shop Online