23 Interesting Facts About Williams Syndrome And Its Causes & Symptoms

Here are the top interesting facts about Williams syndrome:

#1 Williams syndrome (WS), also known as Williams-Beuren syndrome, is a type of rare genetic disorder which commonly occurs as a random event during the formation of the sperm or egg from which a baby develops.

#2 The syndrome is characterized by mental retardation or moderate learning difficulties, distinctive facial features, attention deficit disorder, and a unique personality combining high levels of anxiety, empathy, and over-friendliness.

#3 It may also cause a reduced growth during childhood, and the majority of adults with this genetic disorder are shorter than average. Phobias and problems with anxiety are also common among sufferers of this condition.

#4 In 1961, WS was first described by J. C. P. Williams, a New Zealand cardiologist, who initially called it “elfin face syndrome.” This syndrome occurs in about 1 in 10,000 people and is estimated that 20,000 to 30,000 individuals have it in the US. It does not cause a reduction in life expectancy unless there is a kidney or heart condition.

Symptoms

#5 Children with WS are commonly identified by numerous facial characteristics and traits, which may include – long neck and face (especially in adulthood), white starburst pattern around the iris, uneven eyes, folds over the corners of the eyes, wide mouth with full lips, small chin, short nose with a large tip, wide forehead.

#6 Some also have dental abnormalities, such as – abnormally small, underdeveloped teeth with small, slender roots. Also, problems with the skeletal joints become evident to teenagers with this genetic disorder.

#7 Children with WS do not understand passive sentences which use abstract verbs, like – ”remember” or ”love,” according to a 2010 study. Individuals with this syndrome don’t know when you want to finish a conversation.

#8 Many patients with this condition have heart disorders, usually supravalvular aortic stenosis, that is a narrowing of the large blood vessel which transports blood from the heart to the rest of the human body. If this life-threatening condition is not treated correctly, the aortic narrowing can lead to chest pain, heart failure, and shortness of breath.

#9 Individuals with WS tend to trust and love everyone, hence, they run up to strangers and hug them. Moreover, feeding difficulties in children with this syndrome are common.

#10 Chronic abdominal pain is also frequent, especially in adults. According to statistics, by the age of 30, most patients with WS have type 2 diabetes mellitus or pre-diabetes.

#11 Connective tissue abnormalities increase the chances of a hernia (a sac formed by the lining of the peritoneum) and a hoarse voice.

#12 Hypercalcemia (when calcium level in the blood is above normal) that is observed in more than 15 percent of sufferers with WS is commonly asymptomatic and resolves in the first few years of life.

Causesdna

#13 It is caused by a genetic disorder, specifically a deletion of 27 genes of one of the two chromosome 7s. Even if there are approximately 25,000 genes in the human genome, just the loss of 27 genes can have a dramatic effect on a person’s behavioral, physical, and cognitive make-up.

#14 It can also be caused by missing gene codes for an essential protein, with the scientific name – elastin. This protein gives the connective tissues of the human body the capacity to resume their shape after contracting or stretching.

#15 This disorder is autosomal dominant due to the fact that only one copy of the affected chromosome 7 can cause it.

#16 Not heredity, but random genetic mutations cause this syndrome, according to the National Institute of Neurological Disorders and Stroke.

Nevertheless, an individual with WS has a 50 percent chance of passing this condition on to each of her or his children.

Diagnosis

#17 Doctors can diagnose WS by looking for the syndrome’s important traits or characteristics – heart problems, distinctive facial features, developmental delay, and feeding difficulties.

#18 Also, the clinical diagnosis can be confirmed by a method known as fluorescent in situ hybridization, a molecular cytogenetic test of the DNA which can detect the elastin deletion on chromosome #7 in about 99 percent of the patients with WS.

Treatment

#19 There is no cure for this syndrome.

#20 Treatment is supportive and symptomatic. People with WS require regular monitoring for potential medical problems by a healthcare specialist familiar with the syndrome.

#21 Speech and developmental therapy can help affected children.

#22 Children with WS should avoid supplementation and consumption of foods high in vitamin D since this vitamin increases the absorption of calcium by the body.

Excess calcium is a frequent problem in WS, therefore, avoiding additional vitamin D helps maintain more normal calcium levels in the body.

References

https://www.ncbi.nlm.nih.gov/pubmed/12730017
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516035/
http://cibsr.stanford.edu/research/previous-studies/williams-syndrome.html