Williams Syndrome - What Is It?

Williams Syndrome

Williams syndrome, also referred to as William- Beuren syndrome is a rare neurodevelopmental genetic disorder where there is a deletion or missing of genetic material from contiguous genes in a region on chromosome 7. This is often characterized by delays on growth before (prenatal) and even after birth (postnatal).

As stated by NORD or the National Organization for Rare Disease, the prevalence of William Syndrome is about 1 in every 10,000 to 20,000 births in the United States. These affect the male and the female populace in equal numbers. Also, any race may be affected by the disease. Here are the characteristics that are usually associated with the disease:

Characteristic Facial Appearance

Many younger children suffering from William Syndrome are labeled as having similar facial characteristics. Newborns with the condition often have elfin-like facial characteristics which include microcephaly or unusually small head, an abnormally broad forehead, full cheeks, puffiness surrounding the lips and the eyes, broad nose with a depressed nasal bridge, and/or a remarkably prominent and wide-open mouth.

Also, a stellate or star-like pattern is apparent on the iris of the eye of about 50% of children with William- Beuren syndrome. Although it is more pronounced in newborns with green or blue eyes, it may be harder to distinguish or totally absent in children with darker eyes. Also, affected infants may experience esotropia, or inward deviation of the eyes, and hyperopia or farsightedness.

Other features that will also be evident in children affected with this disorder include a small pointed chin, epicanthal folds or vertical skin fold over the inner corners of the eyes, and/or philtrum or a strangely vertical groove in the center part of the upper lip.

Problems in the heart and blood vessels

Most of the people suffering from Williams Syndrome also suffer from a type of blood vessel or heart problem. In fact, 75% of children with the disorder have congenital heart defects or CHD. Usually, individuals with the condition have SVA or supravalvular aortic stenosis characterized by the tightening of the aorta located above the aortic valve. The aorta is a major artery of the vascular system which distributes oxygenated blood into the different vital organs. With SVA, there is narrowing in the area located above the aortic valve. People may experience pain the chest, fatigue, heart murmurs or unusual heart sounds, dizziness, and or syncope or temporary loss of consciousness.

The degree of narrowing of the aorta varies among affected individuals, ranging from insignificant narrowing to a severe one which requires surgical intervention for the correction of the defect. Additional heart defects that are associated with the condition may include septal defects and/or pulmonary artery stenosis.

The narrowing down of these blood vessels can lead to which can bring detrimental effects to the heart.

Elevated blood calcium levels or Hypercalcemia

Some of the young children affected by Williams syndrome manifest elevations in the blood calcium levels. The true incidence and cause of this phenomenon are still unknown up to this day. When there is hypercalcemia present, it can result in “colic-like” symptoms or extreme irritability in newborns and infants. Too much calcium in the blood can predispose a person to , interfere with vital functions of the heart and the brain, and weaken the bone components.

Sporadically, medical or dietary treatment is needed, especially for newborns and infants. However, in most cases, the hypercalcemia will resolve on its own upon reaching childhood. The anomaly in calcium and vitamin D metabolism could still exist and must be thoroughly monitored regularly.

Here are some of the symptoms you need to watch out for people with hypercalcemia.

  1. Kidneys – Too much calcium in the blood will indicate that the kidneys have to work double to filter the blood. This can trigger frequent urination and excessive thirst. Also, because of too much calcium that needs to be filtered out, some would deposit into crystals in the kidneys which can result in a kidney stone formation.
  2. Digestive System – Hypercalcemia can bring about stomach upset, constipation, nausea, and vomiting.
  3. Bones and muscles- In most instances, the elevation of calcium in the blood was due to a leak from the bones; this, in turn, will weaken them. When there is weakening on the bone, it can further cause muscle weakness, bone pain, and .
  4. Brain- Excess calcium in the brain may affect your normal brain function which can then result in lethargy, fatigue, and confusion. Hypercalcemia can also cause depression as well.
  5. Heart- In some cases, severe hypercalcemia can affect the functions of the heart, which causes fainting, palpitations, and cardiac arrhythmia.

Low Birth Weight and Slow weight gain in children

Most children with the condition have a lower birth weight compared to that child’s brothers and sister. This is still evident even after birth. Children with Williams syndrome have slow weight gain particularly during the first early years of life.

Low weight gain is also referred to as failure to thrive. This indicates that there is either insufficient weight gain or abnormal weight loss. This can be detected by comparing the weight of the child with his or her friends of the same age. The World Health Organization defines low weight gain as a weight that is way below the second percentile of weight appropriate for his or her age, notwithstanding that child’s birth weight. Children with Williams syndrome have a failure to thrive for unknown reasons.

Musculoskeletal problems

Young children suffering from William- Beuren syndrome usually have joint laxity and low muscle tone. However, as the child ages, he or she may develop contractures or joint stiffness.

Older children and even adults with this genetic neurodevelopmental disorder may also develop progressive joint problems which could limit their range of motion. Abnormalities in the skeletal system such as lordosis (backward curvature of the spine), scoliosis (side-to-side curvature of the spine), and kyphosis (front to back curvature of the spine) may also be evident in people with the said condition.

Some affected people may also manifest a pectus excavatum, or sunken breastbone in layman’s term, and hallux valgus or the turning of the great toe inwards to the other toes. These joint and skeletal abnormalities may also result in awkward gait or an abnormal manner of walking. These abnormalities may worsen as the affected individual grows in age.

Feeding difficulty during the early years of life

Infants and even young children with Williams syndrome have feeding problems. These are believed to have been caused by severe gag reflex, low muscle tone, poor sucking reflex, poor swallowing, tactile defensiveness, and among others. These probable causes make it hard for infants and children to eat and feed during their early years of life, predisposing them to slow weight gain. The good thing, though, is that these difficulties will likely resolve as the child gets older.

Dental Abnormalities

Children with Williams syndrome have slightly small and widely spaced teeth. Some infants with the disorder suffer from dental abnormalities such as malformed teeth like hypoplastic enamel, microdontia or small teeth, and malocclusion where the lower and upper teeth do not meet properly. These dental abnormalities are easily corrected through orthodontic correction.

With the disorder, there can also be agenesis of the permanent teeth, alteration in the size of the tooth, and different morphology that affects the appearance of the affected individual. These abnormalities can then complicate orthodontic and prosthodontic treatment.


Many infants suffering from this genetic condition have an extended period of irritability or colic. Colic is defined as extreme episodes of the crying of an infant that could last for 3 hours, 3 days a week for 3 weeks. Any parent who has faced this problem knows that it does take a toll on one’s physical and mental strength.

Usually, colic comes with abdominal bloating and gas. The gas will amplify as the baby cries and swallow more air. Infants with Williams syndrome tend to feel it in a different manner than the typical infant. This can often start, later than the average infants, about 4 months and last up until 10 months.

Although the condition is still a mystery to be solved in the medical world, there are certain issues that should be examined associated with this condition in the William Syndrome world. These are hypercalcemia and reflux. Abnormal sleep patterns and food intolerance can also be associated with colic. The true source of colic remains to be a mystery yet to be solved. Children manifesting these symptoms should be checked for the probable cause behind it.

Excessive social personality

People with Williams syndrome have an endearing personality and are over-friendly. They have unique and high power in their language skills and are very polite. They are generally unafraid of strangers and show intense interest in interacting with older people than with individuals their age. They also show an intense desire to start-up a conversation.

Sensitive hearing or hyperacusis

Children suffering from Williams syndrome usually have a more sensitive hearing as compared to other children. Certain noise levels and frequencies can be upsetting or painful to children affected by the condition. This condition, though, improves as the child grows in age.

According to a study by Dr. Ursula Belugi from Salk Institute for Biological Sciences located in La Jolla, California, children with WS surprisingly love making and listening to music. In fact, they have a good sense of rhythm and memory for songs. This is probably because they have a very sharp hearing to tell the minute difference between different sounds.  This condition, though, improves as the child grows in age.

Developmental delays

Most people suffering from this rare genetic disorder will have cognitive challenges and learning differences that could go mild to severe. The younger generation with the disease usually has developmental delays. Developmental milestones such as talking, walking, and toilet training are achieved at a later part from what is considered normal. Distractibility is a usual problem in the middle age children which will later improve as the child gets older.

Adults and even older children with the condition also show intellectual strengths and weaknesses. They are more likely strong in intellectual areas such as long-term memory, speech, and social skills. However, with regards to spatial relations and fine motor skills, they may show significant weakness.

The correct use of vocabulary range and language is typically enhanced in a few of the children with this neurodevelopmental disorder. However, there are some instances where mental retardation from mild to moderate can occur. Some children with the condition have average intelligence but with severe learning disabilities. Some even have visual difficulties; they may see a picture in parts rather than seeing it as a whole.

Attention Deficit Hyperactivity Syndrome

Children with this disorder also suffer from ADHD or attention deficit hyperactivity disorder. In fact, more than 50% of people affected with Williams syndrome are also diagnosed with ADHD or ADD. 

Many children with Williams syndrome have a hard time concentrating and paying attention to a chore or task for a prolonged period of time. Even at an early age, infants will already show inattentive issues. In one of the studies focusing on Williams syndrome and ADHD, it has shown that around 43% of the participants have ADHD and it is primarily due to inattentiveness, not impulsiveness nor hyperactivity.

ADHD is a very challenging condition for parents, educators, and even doctors to treat as the basis of the condition lies around the complicated chemistry in the brain. Also, the condition becomes much harder to teat as people with ADHD also manifest other psychiatric disorders like mood disorder, learning or behavioral disorders, , and others. Thus, the treatment for the condition should jive with all the psychiatric disorders manifested which makes it all the more complicated.


These are the common characteristics associated with Williams Syndrome. This genetic neurodevelopmental disorder is caused by the deletion of genetic material from chromosome 7. It is important to be aware of these conditions, as your child or your relative or family’s kid may be suffering from this condition. Early diagnosis can lead to prompt treatment which can enhance one’s prognosis.