23 interesting facts about Williams syndrome, life expectancy and famous people

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23 interesting facts about Williams syndrome, life expectancy and famous people

Here are the main interesting facts about Williams syndrome:

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

# two the syndrome It is characterized by mental or moderate retardation. learning difficulties, distinctive facial features, attention deficit disorder and a unique personality that combines high levels of anxiety, empathy and friendship excess.

# 3 It can also cause reduced growth during childhood, and most adults with this genetic disorder are shorter than average. Phobias and anxiety problems are also common among those with this condition.

Statistics and life expectancy

# 4 In 1961, it was first described by J. C. P. Williams, a New Zealand cardiologist, who initially called it "elfin face syndrome". This syndrome occurs in approximately 1 in 10,000 people and it is estimated that there are between 20,000 and 30,000 people in the US. UU It does not cause a reduction in life expectancy unless there is a renal or cardiac condition.

The symptoms

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

# 6 Some also have dental abnormalities, such as: abnormally small and underdeveloped teeth with small, thin roots. In addition, problems with skeletal joints become evident for adolescents with this genetic disorder.

# 7 Children with WS do not understand passive sentences that use abstract verbs, such as "remember" or "love," according to a 2010 study. Individuals with this syndrome You do not know when you want to end a conversation.

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

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# 9 People with WS tend to trust and love everyone, therefore, they run towards strangers and embrace them. In addition, feeding difficulties in children with this syndrome They are common.

# 10 Chronic abdominal pain is also common, especially in adults. According to statistics, at the age of 30 years, most patients with WS have diabetes mellitus type 2 or prediabetes.

# eleven 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 the level of calcium in the blood is higher than normal) that is observed in more than 15 percent of patients with WS is commonly asymptomatic and resolves in the first years of life.

Causesdna

# 13 It is caused by a genetic disorder, specifically a deletion of 27 genes from one of the two 7s chromosomes. Even if there are approximately 25,000 genes in the human genome, only the loss of 27 genes can have a dramatic effect on a person's behavioral, physical and cognitive behavior.

# 14 also can be caused There is a lack of genetic codes for an essential protein, with the scientific name – elastin. This protein gives the connective tissues of the human body the ability to regain its shape after contracting or stretching.

#fifteen This mess It is autosomal dominant due to the fact that only one copy of chromosome 7 can cause it.

#sixteen No inheritance, but random genetic mutations cause this. syndromeAccording to the National Institute of Neurological Disorders and Cerebrovascular Accidents.

However, a person with WS has a 50% chance of transmitting this condition to each of their children.

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Diagnosis

# 17 Doctors can diagnose WS by looking for the features or important features of the syndrome: heart problems, distinctive facial features, developmental delays, and feeding difficulties.

# 18 In addition, the clinical diagnosis can be confirmed by a method known as fluorescent in situ hybridization, a molecular cytogenetic test of DNA that can detect the removal of elastin on chromosome 7 in approximately 99 percent of patients with WS.

Treatment

# 19 There is no cure for this syndrome.

# twenty The treatment is supportive and symptomatic. People with WS require regular monitoring of possible medical problems by a health specialist familiar with the syndrome.

# twenty-one Speech and developmental therapy can help affected children.

# 22 Children with WS should avoid supplements and the consumption of foods rich in vitamin D, as this vitamin increases the absorption of calcium by the body.

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

4 famous people with Williams syndrome

# 1 Ben (Big Red) Monkaba

Ben is a regular member of the Black Cat community theater ensemble with 3 shows under his belt. He has undergone multiple spinal and cardiovascular surgeries, and knows how important some genuine laughs and smiles can be for a child in the hospital.

# 2 Leah Ward

She has been diagnosed with WS. Leah and North Carolina Central University basketball coach LeVelle Moton has a special friendship. He even called her to deliver the pregame speech before the games.

# 3 Amy Koch

She appeared on the "Women and Girls Lead" series on KLRU-TV in Austin, TX, a multi-year public media initiative.

# 4 Gloria Lenhoff

She is a 53-year-old lyric soprano singer who has performed with members of Aerosmith and the Coral Master of San Diego.

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

23 Interesting facts about Williams Syndrome + Life expectancy and Famous people, Source: https://www.yourhealthremedy.com/health-tips/williams-syndrome-facts-causes-symptoms/

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