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16 Interesting Facts About Williams Syndrome

By: Author Health Guide's Editorial

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Interesting facts about Williams Syndrome:

Introduction

Williams syndrome is a genetic multisystemic neurodevelopmental disorder that is characterized by cardiac anomalies (most often supravalvular aortic stenosis), a distinct facial appearance, connective tissue abnormalities (like joint laxity), and developmental and cognitive abnormalities.

List Of 16 Interesting Facts About Williams Syndrome:

Statistics

#1 An estimated 1 in 7,500 to 20,000 individuals have this syndrome.

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Life Expectancy

#2 Individuals with WS are more vulnerable to common illnesses even if they are generally healthy. Also, they are more likely to be injured in accidents.

However, no studies exist regarding the life expectancy of people with Williams syndrome, but, suferrers have been reported to live well into their 60s.

Celebrities With WS

Carrot Top

Carrot Top

© Getty Images

#3 He is an actor, comedian, and writer who is best known for his bright red hair, his prop comedy acts, and his self-deprecating humor.

He began his comedic career after performing at an open mic night at Florida Atlantic University.

Ben Monkaba

#4 He is a member of the LIVE program at the Berkshire Hills Music Academy.

Causes

#5 It is caused by a genetic deletion on the long arm of chromosome 7, encompassing about 25 genes. ELN, CLIP2, GTF2IRD1, GTF2I, and LIMK1 are among the genes that are usually deleted in individuals with WS.dna

#6 Most people do not inherit WS; the deletions in chromosomes are caused by random events that occur in sperm or eggs from their parents.

#7 WS is autosomal dominant since only one copy of the altered chromosome 7 can cause the syndrome. However, affected people do have a 50% chance of passing the altered chromosome 7 on to their children.

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Symptoms

#8 Common symptoms of the condition include:

  • farsightedness;
  • specific facial features, such as – small upturned nose, a wide mouth, full lips, and widely spaced teeth;
  • kidney abnormalities;
  • feeding or colic problems;
  • low muscle tone;
  • low birth weight;
  • attention deficit hyperactivity disorder (note – some children have inattention and others both hyperactivity and inattention);
  • varying degrees of intellectual disability;
  • learning disorders;
  • sunken chest;
  • problems with anxiety;
  • inward bend of the pinky finger;
  • speech delays, although speech later becomes a relative strength;
  • short stature;
  • specific phobias.

#9 People with the syndrome frequently demonstrate difficulties in higher-order social-cognitive functions.

These difficulties manifest in atypical imagination, non-verbal communication, and problems in understanding the mental states of others.

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#10 Other common characteristics of WS include:

  • unsteady gait and/or tremor in adulthood;
  • characteristic facial features, particularly in childhood, like – small jaw, full cheeks, large ears, epicanthal fold (a skin fold of the upper eyelid covering the inner corner of the eye);
  • scoliosis (abnormal curvature of the spine);
  • feeding difficulties in infancy, frequently leading to poor growth;
  • shorter than average height;
  • dental abnormalities, like – missing or small teeth and poor enamel;
  • hearing loss;
  • chronic ear infections;
  • hyperextensible joints and low body tone, which may result in delayed developmental milestones, like – walking and sitting;
  • farsightedness and/or eyes that do not align;
  • diabetes in adulthood;
  • early puberty;
  • hypothyroidism (when your thyroid gland doesn’t produce enough hormones);
  • elevated calcium level, especially in infancy;
  • excessive empathy;
  • sleep problems;
  • overly friendly (lack of “stranger danger”).

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Complications

#11 Complications associated with WS are:

  • dental diseases;
  • sudden cardiac death – it is a sudden, unexpected death that is caused by a change in heart rhythm. The risk of sudden death increases by 25 to 100 folds in people with WS than the general population;
  • presence of kidney stones;
  • high blood pressure or stroke at a younger age;
  • hearing loss;
  • short-term memory loss;
  • mental retardation;
  • gastroesophageal reflux disease – it is a long-term condition where stomach contents come back up into the esophagus;
  • chronic constipation – it occurs if you are regularly constipated for long periods of time;
  • colonic diverticulosis – it is the presence of one or more diverticula in the colon.

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Diagnosisdoctor diagnosis

#12 The following tests may be performed in people suspected of having WS:

  • the clinical manifestations, like – renal cysts and cardiovascular anomalies, may be observed on an antenatal screening ultrasound;
  • a routine chromosomal analysis (karyotype) – it is the traditional method of chromosome analysis;
  • fluorescent in situ hybridization (a molecular cytogenetic technique) for the 7q11.23 elastin gene deletion is done in individuals with suspected WS;
  • thyroid function tests;
  • tests to determine creatine phosphokinase (an enzyme in the human body that is found mainly in the brain, heart, and skeletal muscle) levels, which may be elevated because of underlying inflammation of the muscles;
  • tests to determine blood calcium levels;
  • to check for any renal stones (that are caused by high calcium levels) and to rule out anatomic abnormalities – renal ultrasound;
  • to rule out cardiac anomalies – echocardiography (a sonogram of the heart).

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Treatment

#13 There is no single therapy or medical treatment used for the syndrome, however, a multidisciplinary raft of therapies and treatments can help to address some of the health problems linked with WS.

Some of these treatments and therapies include:therapy

  • psychological therapy;
  • physiotherapy;
  • specialist advice regarding sensory integration disorder (a condition in which the brain has problems responding to and receiving information that comes in through the senses);
  • music therapy;
  • speech therapy;
  • occupational therapy.

#14 Individuals with the syndrome need regular cardiovascular monitoring for potential medical problems, like – hypertension, symptomatic narrowing of the blood vessels, and heart failure (when the heart is unable to pump enough blood).

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Prognosis

#15 Most affected individuals need full-time caregivers and frequently live in supervised group homes.

Also, the majority of patients with the syndrome will not live as normal due to numerous medical problems. Lastly, an estimated 75 percent of patients have some intellectual disability.

Prevention

#16 There is no known way to prevent the genetic problem which causes WS.

Featured image credit – Getty Images

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Sources

https://louisville.edu/psychology/mervis/lab/
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170180
https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0657-6