What is Williams Syndrome?
Williams syndrome is an unusual genetic disorder caused by the deletion of specific DNA traits.
This missing gene can cause mild to moderate developmental and learning disabilities as well as unique facial features. The deletion may occur prior to conception, in either sperm or egg.
It is estimated that approximately 20 to 30 thousand people in the U.S. are affected by this disorder. Worldwide, it is seen in one out of ten thousand. (1)
DNA (deoxyribonucleic acid) determines each person’s unique features and personalities.
Chromosomes are the DNA building blocks. These carry genetic traits or codes determining gender and physical features. They also play a significant role in development.
When a child with Williams syndrome is conceived, one of the chromosomes is deleted.
Every chromosome is identified by a number from one to 23, each with its distinctive role. Those affected by Williams syndrome are missing code number seven. (2)
Chromosome number seven is believed to hold from 900 to thousands of genes. These help the body produce and use protein and enable blood vessels and other tissues to stretch. (3)
This missing link is believed to cause Williams syndrome and its possible complications. These may include heart diseases and kidney problems. Many infants require surgery within the first few weeks of life.
Some symptoms and indicators might include:
Joint and Musculoskeletal Problems
The missing chromosome holds essential traits for the muscles and tissues, namely elastin.
This enables flexibility in the joints as well as muscle tone. For those affected by Williams syndrome, this missing link will change facial features and cause looseness in cells. (4)
Those affected may show low muscle tone and as they grow out of childhood, joints may stiffen. This might be corrected with physical therapy.
Williams syndrome may cause unique facial features during early childhood.
Children are often characterized by a small nose pointing upwards, an extended upper lip and a wide mouth with full lips. A smaller chin and puffiness under eyes may also present. (5)
Those with lighter eye colors may have a “starburst,” which is a white pattern or dot on the iris. (6)
Hypercalcemia is the condition whereby the blood contains too much calcium.
This is especially prevalent throughout infancy. The child may seem easily irritable and often suffers from colic-like symptoms. Many children will outgrow this condition, although for some it can remain a lifelong issue. (7)
Williams syndrome is likely to cause mild to moderate intellectual disabilities as well as developmental delays. (8)
Affected children may reach milestones, such as potty training or walking, later than others. There is also a likelihood of delayed speech.
Those affected may find it difficult to concentrate. They often exhibit an additional condition such as attention deficit disorder (ADD). Although most will outgrow this, it can cause issues with learning abilities.
However, as the child grows into adulthood, weakness may become strengths. Speech and long term memory can be areas in which the adult with Williams syndrome will thrive.
Children and adults with Williams syndrome will often measure a bit shorter than other family members. (9)
Newborns often have a lower than average birth weight, which may follow throughout childhood. This could be a result of early feeding difficulties. Children and infants will often show sensitive gag reflexes and poor suck, which is believed to be a result of inferior muscle tone.
Sufferers are often labeled as “failure to thrive.” This means their weight falls below that of most children. Fortunately, this is usually limited to early childhood but may be a factor in lower than average height.
Hearing impairments often show as sensitivity to high volumes; this is called hyperacusis.
The affected is likely to outgrow this. But during childhood, loud noises and specific frequencies may alarm or startle the child. (10)
Dental abnormalities may present as smaller than average teeth usually with large gaps in between each tooth. (11)
Sometimes the teeth may have an unusual appearance and children often show an abnormal bite.
Williams syndrome has a significant effect on personality traits. Those affected often exhibit friendly and endearing characteristics and usually take much satisfaction in making other people smile. (12)
Children will often show greater interest in adults than their peers. They are generally not shy from new people. They will likely display strong expressive language and a very polite nature.
Williams syndrome can characterize through each stage of development, from birth to adulthood. Most are diagnosed in the early weeks of life and this is often difficult for parents as the disorder does come with possible complications. (13)
Stage #1 Infancy
Williams syndrome usually presents during the first months of life. The infant is diagnosed with heart and blood vessel issues, which sometimes require early surgical interventions.
Doctors will likely request further testing to check for Williams syndrome. Physicians usually use a chromosomal microarray (CMA) test which can detect missing links.
The child will grow at a slower than average rate. They might exhibit feeding impairments which can become an issue when transitioning to solid foods. The affected is highly inclined to colic and irritability as well as sleeping problems.
Stage #2 Preschool
Preschoolers with Williams syndrome show significant delays in speech development.
Parents and therapist must work to prepare the child for transitioning to school. Eventually the child is likely to make a turn around where speech becomes a strength.
Parents must be on the lookout for health problems as these may still be prevalent.
Stage #3 School Age
When the child reaches school age, the primary health concerns typically begin to subside.
Concentration issues may become more apparent and anxiety can begin to develop. Fears are usually localized to specific events or phobias. However, towards the end of high school, these may extend to social situations.
Even though affected children often show outgoing personalities, they may need help socializing.
Stage #4 Adulthood
During adulthood, anxiety can often lead to depression. It is imperative for the individual to feel productive and have a sense of purpose, within a supportive environment.
Low weight which was characteristic in childhood can now transition into obesity, where the affected will have increased risks of related health issues.
Life expectancy is often shorter than normal and early signs of aging such as grey hair may present earlier than usual.
Williams syndrome is a genetic disorder, which as of yet, has neither a cure nor a set of medical treatments.
Medical interference may only be used to treat complications. Otherwise, developmental rehabilitation and early intervention are recommended to ensure a good start in life. (14)
These can include:
Affected children generally show poor motor skills and problems with coordination, balance impairments, and weak muscle tone.
Physical therapy can help correct these issues to a significant extent. This could promote the child’s development. (15)
Occupational therapy can help refine the child’s fine motor skills such as picking up smaller items. It may also improve his/her perception of visual-spatial definitions. (16)
This therapy may further help during early years where many exhibit independence issues. This might improve skills such as self-feeding and drinking.
Children often display obstructions in speech development.
This is usually due to lack of muscle tone. However, when the child begins to master speech, he/she may exhibit difficulty managing spoken information. Fortunately, a speech therapist may help improve this. (17)
What is Williams syndrome? Williams syndrome is a genetic disorder, causing mild to moderate intellectual disabilities.
What are the signs of Williams syndrome? Children born with this disorder will display unusual facial features, developmental delays and a shorter than average height. Those affected may also exhibit sensitive hearing, dental impairments and low muscle tone. However, they generally present a friendly and lovable personality and a great interest in music. (18)
How do you develop Williams syndrome? Williams syndrome is a congenital disorder. It occurs before conception where either sperm or egg has a gene impairment. This triggers a deletion of an essential chromosome, resulting in this disease. (19)
How are you diagnosed for Williams syndrome? Doctors can identify this syndrome by a set of genetic tests which look for confirmation of the deletion, such as CMA tests. Even though a child might display unique facial features, this alone is not enough evidence for a diagnosis. Sometimes the disorder is not discovered until complications, such as heart diseases, are encountered. (20)
What is the best treatment for Williams syndrome? Treatment revolves around different developmental interventions and therapies. If the affected has any medical complications these will be treated. Many children have corrective heart surgery during their first few years of life. (21)
What are the long term complications of Williams syndrome? The missing gene holds a link which allows blood vessels and tissues to stretch and as a result of this those affected have an increased risk of heart failure. Sufferers may also develop anxiety and depression disorders which might have long term effects. (22, 23)
Is Williams syndrome considered a disability? Yes, Williams syndrome causes mild to moderate intellectual disabilities. However, people with this condition often display strengths in fields such as music and speech.
Is there any cure for Williams syndrome? No, this syndrome is persistent throughout life. But it can be improved with interventions and different therapies to assist with development.
Is Williams syndrome life threatening? Life expectancy for those affected is shorter than average. The potential complications which may develop can be fatal.
Williams syndrome is a rare neurological disorder causing mild to moderate intellectual disabilities and slow development.
Due to a missing genetic link, children and adults may exhibit unique facial features.
Those affected show great, lovable personalities. They enjoy socializing and thrive in fields of music and expressive language. In fact, many parents report a child with Williams syndrome brings an incredible sense of love and new perspectives into daily life. (24)