What is the cause of Williams syndrome?

Asked By: Johnsie Vernia | Last Updated: 23rd February, 2020
Category: medical health hormonal disorders
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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.

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Also, what are the signs and symptoms of Williams syndrome?

  • specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips.
  • colic or feeding problems.
  • attention deficit hyperactivity disorder (ADHD)
  • learning disorders.
  • inward bend of pinky finger.
  • specific phobias.
  • short stature.
  • speech delays.

Subsequently, question is, why are people with Williams syndrome friendly? Williams Syndrome is caused by the deletion of roughly 25 genes on chromosome 7. The deletion can occur randomly during the production of a sperm or egg cell. Why the deletion of genes causes such friendliness and social disinhibition is not well understood.

Beside this, how common is Williams syndrome?

Williams syndrome is a rare disorder that affects males and females in equal numbers and infants of any race may be affected. The prevalence of this disorder is approximately one in 10,000-20,000 births in the United States.

What is the life expectancy of someone with Williams syndrome?

Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s.

33 Related Question Answers Found

Is Williams syndrome more common in males or females?

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture. Children with Williams syndrome tend to be social, friendly and endearing.

What is the difference between Down syndrome and Williams syndrome?

Down syndrome is more common than Williams syndrome, occurring in 1 in 600-800 births. It usually results from an additional copy of chromosome 21, the most common of which is trisomy 21. Williams syndrome is a much less common neurodevelopmental disorder caused by a submicroscopic deletion on chromosome 7q11, 23.

What is an elfin face?

Elfin facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips.

Can you have mild Williams syndrome?

Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. People with Williams syndrome (WS) often an unusual "elfin" appearance, with a low nasal bridge.

Is Williams syndrome hereditary?

Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.

What is the opposite of Aspergers?

Chris has Williams Syndrome (WS), a rare genetic disorder affecting around one in 18,000 people in Britain. It has often been dubbed the 'opposite of autism'. People with WS are empathetic, social, friendly and endearing but they tend to have a low IQ, making tasks such as counting money difficult.

How is Williams Syndrome Detected?

How is Williams syndrome diagnosed? The clinical diagnosis can be confirmed by a blood test. The technique known as fluorescent in situ hybridization (FISH), a diagnostic test of the DNA detects the elastin deletion on chromosome #7 in more than 98% of individuals with Williams syndrome.

Does Williams syndrome run in families?

Most cases of Williams syndrome are not inherited. Therefore, it most often occurs in people with no family history of Williams syndrome. In a small portion of cases, people with Williams syndrome inherit the chromosome deletion from a parent with the condition.

Is Williams Syndrome diagnosed at birth?

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. An electrocardiogram (EKG) or ultrasound can check for heart problems.

What does the 7th chromosome do?

Chromosome 7 spans about 159 million DNA building blocks (base pairs) and represents more than 5 percent of the total DNA in cells. Chromosome 7 likely contains 900 to 1,000 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Can you have Williams syndrome and autism?

However, several individuals with Williams syndrome are also diagnosed with autism. This suggests that they share an underlying mechanism and understanding one disorder can shed light on the other. Children with a duplication in the Williams syndrome region have some autism-like features4.

What is Cocktail Party Syndrome?

The cocktail party effect is the phenomenon of the brain's ability to focus one's auditory attention (an effect of selective attention in the brain) on a particular stimulus while filtering out a range of other stimuli, as when a partygoer can focus on a single conversation in a noisy room.

How do you get Down syndrome?

Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.

What happens when you are missing chromosome 7?

Features that often occur in people with chromosome 7q deletion include developmental delay , intellectual disability , behavioral problems, and distinctive facial features. Most cases are not inherited , but people can pass the deletion on to their children.

What are some types of syndromes?

How can I find out more about specific genetic syndromes?
  • YourChild: Angelman Syndrome.
  • Cri du Chat Syndrome (5 P-)
  • YourChild: Down Syndrome (Trisomy 21)
  • YourChild: Fragile X Syndrome.
  • Klinefelter Syndrome.
  • YourChild: Neurofibromatosis.
  • YourChild: Prader-Willi Syndrome.
  • YourChild: Rett Syndrome.

What is the current status of research on Williams syndrome?

Doctors can now perform tests for the gene that encodes elastin in order to confirm the diagnosis of Williams syndrome. Ongoing research is determining the identity of other genes that are deleted in Williams syndrome and the structure and function of the proteins for which they encode.

Who has Williams syndrome?

Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge.