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Who came up with Williams syndrome?

Who came up with Williams syndrome?

Cardiologist Dr. John Cyprian Phipps Williams discovered the syndrome in 1961. [3][4] In 1962, Dr. A. J. Beuren found similar findings, resulting in the naming of the syndrome as Williams-Beuren syndrome.

Is William syndrome hereditary?

Williams syndrome is usually caused by a random genetic mutation, or error, in chromosome 7. This means that most people with Williams syndrome have not inherited the condition from a parent. People with Williams syndrome have a 50% chance of passing the condition on to each of their offspring.

Why do people have Williams syndrome?

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

What meiotic event causes Williams syndrome?

Mechanisms whereby chromosomes paired during meiosis may undergo unequal crossover resulting in Williams syndrome have typically been thought to result from an unequal overlap of repetitive Alu sequences flanking the region, resulting in a type of misalignment of the chromosomal regions during a crossover event.

Is Williams syndrome a form of autism?

Autism spectrum disorders (ASD) and Williams syndrome (WS) both are neurodevelopmental disorders, each with a unique social phenotypic pattern.

At what age is Williams syndrome diagnosed?

Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth.

Are there any celebrities with Williams syndrome?

Several famous (or recognizable) people have been diagnosed with Williams syndrome, which include: Amy Kotch, featured in KLRU-TV’s public media. Gloria Lenhoff, a soprano singer who has performed with Aerosmith, and the San Diego Master Chorale. Ben (Big Red) Monkaba, a member of the Black Cat community theater.

What is elfin syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What is the difference between Down syndrome and Williams syndrome?

Williams syndrome and Down syndrome are both chromosomal disorders affecting people from birth. However, Williams syndrome is caused by a missing chromosome, while Down syndrome is caused by an extra chromosome.

Does Williams syndrome make you friendly?

Children with Williams syndrome typically have a personality that is friendly, outgoing, and/or talkative. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. Mild to moderate mental retardation may occur.

Can Williams syndrome be cured?

People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure. There is no cure for Williams syndrome, nor is there a standard course of treatment.

What is the life expectancy of someone with Williams syndrome?

Not enough scientific studies have been done on the life expectancy of Williams syndrome sufferers. There are some sufferers living normal lives up to adulthood. The average loss of years in the lifespan of people with this syndrome is between 10 and 20 years. Williams syndrome is also called Williams Beuren Syndrome.

What are some facts about Williams syndrome?

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…

What are the causes of Williams syndrome?

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome.

What is the treatment for Williams syndrome?

Treatment options for Williams syndrome. There is no cure for Williams syndrome. Treatment involves easing the symptoms connected to the syndrome. Narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can also be beneficial.