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What Is Williams Syndrome?

Williams syndrome, also called Williams-Bueren syndrome, is an unusual genetic syndrome known for delays in growth before and after a child’s birth. As the child grows, they experience stunted growth, a variable degree of mental deformity, and a unique facial outlook that becomes more noticeable as they age. The syndrome also causes endocrine problems like excess calcium in the urine and blood, hypoactive thyroid, and quick puberty.

A Global Developmental Delay, commonly known as GDD, is a situation where a child is always behind peers in achieving certain levels of intellectual growth and development.

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Symptoms of Williams Syndrome

Williams syndrome has several symptoms peculiar to almost every human body area, including internal and external regions. However, not everyone with Williams syndrome will experience all the signs. For instance, while some experience cardiac symptoms, others may only suffer from excessive calcium in the blood. The stringency of the symptoms differs between cases. Its common symptoms are explained below.

Facial Symptoms

Individuals with Willaims syndrome have facial characteristics like:

  • Robust cheeks, large open out, and round faces.
  • Thick lips and large nostrils that are pointed forward.
  • They may also have flared eyebrows, conspicuous ears, and short eyelid folds.
  • Small-sized lower jaws, small-sized, and fragile teeth with frail roots. Their top and lower dentitions do not meet each other appropriately. This condition is also known as malocclusion.
  • Wide forehead and a small head.
  • Swollenness around the eyes and lips.
  • Erect skin wrinkles in the inner eye region and a small sharp chin.
  • Long vertical line in the middle of the upper lip.

Cardiac and Blood Symptoms

Williams syndrome is evident in the blood. It is characterised by:

  • Cardiac disorders
  • An excessively increased blood calcium level at the infant stage is also known as infantile hyperglycemia.
  • Musculoskeletal irregularities
  • Prevention of regular blood flows from the right ventricle to the pulmonary stenosis.
  • An irregular thinning above the valve between the left ventricle and major artery.
  • Over 70% of them often have Congenital Heart Defects, also known as CHD. Some CHDs include septal disorders and pulmonary artery stenosis.
  • Narrowing of the aorta and regions around the aortic valve.
  • Chest pains and sleepiness.
  • Heart noises and temporal unconsciousness.
  • Excessive high blood pressure in grownups.

Sometimes, the calcium level may return to normal after one year from the child’s birth; however, some children suffer it throughout their lives. This excessive calcium condition is known as hypercalcemia.

Musculoskeletal Symptoms

Musculoskeletal symptoms of Williams syndrome include:

  • Breastbone indentation
  • Kyphosis, backward or side-to-side spinal shape.
  • Walking abnormality and inward curve of the big toe towards others.
  • Progressive joint discomfort. It often prevents them from making a lot of movements and occurs in teenagers and adults.

These musculoskeletal symptoms may develop and worsen as the affected persons grow.

Mental Symptoms

Williams syndrome can also be visible in the mental states of its affected individuals. Some symptoms of the disorder include:

  • Average mental deceleration
  • Weak visual-motor combination skills
  • Extroverts, talkativeness, and friendliness.
  • Short-term mental concentration.
  • The correct and improved use of vocabulary and language.
  • A reasonable level of intelligence but with terrible learning disorders.
  • Overexcitement and impressive explicit and implicit memory

Physical Symptoms

Some physical symptoms associated with Williams syndrome include:

  • Lower than average weight at birth
  • Poor feeding habit
  • Poor growth and weight gain
  • Gasping, constipation, puking, and diarrhoea at the infant stage
  • Low appetite, grumpiness, confusion, quick tiredness, weakness, abdominal pain, muscular discomfort.
  • An iris pattern like that of a star. This characteristic happens in almost half of the children with Williams syndrome, prevalent in babies with a green or blue iris.
  • Inward eye digression and longsightedness.
  • High sensitivity to sound.
  • Middle ear disorders.
  • Delayed fine and gross motor functions and motor development.

Although these individuals often have a growth shoot between 5 and 10 years of age, they are usually below average heights during adulthood.

Other Internal Disorders

Other internal disorders associated with Williams syndrome include persistent urinary tube diseases, kidney problems, premature thyroid gland, and omphalocele.

Causes of Williams Syndrome

Sometimes, the cause of Williams syndrome is not known. But studies have traced some cases to have origins from the family. Studies show that familial and periodic Williams syndrome stems from removals of genetic substances from neighbouring genes. These genes are found on the elongated arm of chromosome 7. Chromosomes found in the core of the human cell contain the genetic data for that person. Human chromosomes are numbered in pairs, ranging from one to 22. Then there is an extra pair that makes it 23. These extra chromosomes are sex chromosomes (X, Y), and they are made up of a single X and Y chromosomes in masculines and double X chromosomes in feminines. Every chromosome owns a short arm denoted as “p,” and the elongated arm is designated as” q.”

Studies show that 28 genes are responsible for causing Williams syndrome. These genes include the ELN gene, the RCF2 gene, and the LIM kinase-1 gene. The LIM kinase-1 gene is often accountable for visual-spatial disorders related to Williams syndrome. Sometimes, the offspring receives the syndrome as an autosomal dominant characteristic. Genetic conditions are transmitted from the parental genes to offspring, although there is a 50 per cent chance that the parents will pass the abnormal gene. Also, they can occur due to genetic mutations in the offspring.

In many cases, hypercalcemia is caused by a strange sensitivity to Vitamin D.

Related Syndromes

Other disorders have similar symptoms to those of Williams disorder. They are explained below.

Noonan Syndrome

Noonan syndrome is also a non-common genetic ailment mostly found during childbirth. It has many symptoms that differ by range and harshness. Some of its characteristics include:

  • Wideness or webbed features around the neck region.
  • Unusual facial look, small stature, and low back hairline.
  • Wide eyes and up-straight skin wrinkles on the inner parts of the eyes.
  • A small jaw, drooping upper eyelids, and abnormal round ears.
  • Abnormal spine shape and outward curve of the elbows.
  • Heart disorders, lymph and blood vessel abnormalities.
  • Irregular blood clotting and platelet abnormalities.

Idiopathic Infantile Hypercalcemia

This condition is known as an abnormal increase in the amount of calcium in the blood in infants. To date, the cause for this condition is not known. Some symptoms of this condition include:

  • Anorexia (lack of appetite)
  • Weakness
  • Quick tiredness
  • Confusion
  • Muscular and abdominal disturbance
  • Grumpiness

Although, children with this condition do not have distinct facial characteristics and heart disorders, unlike Williams syndrome. Also, there are questions about whether this condition is a variant of Williams syndrome.

Donohue Syndrome

Donohue syndrome, also known as Leprechaunism, is an uncommon genetic endocrine abnormality. It is associated with excessive growth of the pancreas, incapacity to use insulin, and heightened amounts of estrogen. People with this syndrome usually experience stunted growth from the foetus stage. Symptoms of this condition include:

  • Short legs and arms
  • Big hands and low-set ears
  • Face with a structure of an elfin
  • Hollow cheeks and eyes with unusual space between them.
  • Low body glucose and excessive insulin.

William Syndrome Affected Population In The UK

Just as earlier started, William syndrome is not a common disorder, but it equally occurs in males and females. It spans every race in equal numbers. 2 out of 36000 people in the United Kingdom have Williams syndrome.

Diagnosis

Diagnosis of Williams syndrome is made through extensive medical examinations. These examinations involve comprehensive studies about the patient and recommended blood tests to discover excessive calcium contents in the blood. Another vital diagnosis for this condition is the Fluorescent In Situ Hybridization test, also known as FISH. Medical experts use it to check if there is an omission of an elastin gene on chromosome 7.

Children with cardiac disorders receive recommended tests to determine the location and how severe their heart defects are. Medical experts recommend tests like Echocardiogram, Cardiac catheterisation, or EKGs.

Treatment

Vitamin D restrictive diets are often recommended for newborns with Williams syndrome who have excessive calcium levels in their blood. These children may also be restricted from taking foods with calcium contents. Other treatments for hypercalcemia include corticosteroid medications like prednisone. Endocrinologists preferably treat children with hypercalcemia. Although, calcium levels may become normal after one year from childbirth. For children with heart disorders, they may receive surgical operations.

Experts recommend special education classes for young ones with William syndrome to achieve academic and social milestones. They also need language and speaking therapy, physical and occupational intervention, social treatment, and vocational coaching. In some cases, music therapy can be instrumental as it relieves anxiety and boosts their learning capacity.

Families with this condition require generic advice to manage and control the William syndrome symptoms.

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