What is the genetic cause of Williams syndrome?
Williams syndrome is caused by the loss (deletion ) of genetic material from a specific region of chromosome 7. The deleted region includes 25 to 27 genes, and researchers believe that a loss of several of these genes contributes to the characteristic features of this disorder.
How many genes are missing in Williams syndrome?
Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.
What proteins are affected by Williams syndrome?
One of the missing genes is the gene that produces elastin. This is a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition.
What body systems are affected by Williams syndrome?
Children with this syndrome could have problems with their heart, blood vessels, kidneys, and other organs. Their nose, mouth, and other facial features may be unique. They sometimes have trouble learning. Children with Williams syndrome will need to see many doctors throughout their lives.
Can Williams syndrome be detected during pregnancy?
To date, 30 fetuses with prenatal diagnoses of WBS have been reported. In previous literature reports, the most common ultrasound features were: IUGR (82.35%), SVAS (40%), VSD (30%), AC (20%), and PAS (20%) [10].
What does the 7th chromosome determine?
Abnormalities involving the inheritance of chromosome 7 can cause Russell-Silver syndrome, a rare condition characterized by slow growth, distinctive facial features, delayed development, speech and language problems, and learning disabilities.
What are characteristics of Williams 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 makes Williams syndrome unique?
Publications. Definition. Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
Is there genetic testing for Williams syndrome?
Williams syndrome is a contiguous gene syndrome, which means that all of the deleted genes “line up” within the Williams syndrome “critical region” of 26-28 genes. There are two DNA tests that can determine if a person has Williams syndrome. The FISH test and the Microarray.
Can people with Williams syndrome have children?
Can people with Williams Syndrome have a child/children of their own? There are no significant physical reasons why people with Williams Syndrome cannot conceive normally, but their own health may pose a potential risk, particularly if they have a heart condition.
What famous people have 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.
Can people with Williams syndrome have kids?
What is unusual about many people with Williams syndrome?
People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge. Unique personality traits include a high level of sociability and very good communication skills. The high level of verbal skills may mask other developmental problems and sometimes contribute towards a late diagnosis.
Are people with Williams syndrome sterile?
There are no significant physical reasons why people with Williams Syndrome cannot conceive normally, but their own health may pose a potential risk, particularly if they have a heart condition.
What is the IQ of someone with Williams syndrome?
Williams syndrome IQ ranges from 48 to 85. True, people with Williams syndrome are often very loquacious and usually have better language than spatial skills, but the profile of the syndrome is unscientifically exaggerated by secondary sources.
Why are people with Williams syndrome so happy?
And they found that people with Williams syndrome have a lot more oxytocin than everybody else, and that it fluctuates wildly in the brain. As a result, they feel this biological impulse to love all the time.
Do people with Williams syndrome have more oxytocin?
Scientists realized it was related to the levels of oxytocin. They knew that oxytocin is involved in social/intimacy behaviors, like mother-child bonding or romantic encounters. And they found that people with Williams syndrome have a lot more oxytocin than everybody else, and that it fluctuates wildly in the brain.
Can people with Williams syndrome have babies?
Does Williams syndrome make you happy?
Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness.
Does Williams syndrome affect intelligence?
Most individuals with Williams syndrome have a degree of intellectual disability, ranging from mild to severe. Research studies have suggested that IQ scores for children with Williams syndrome range from 40 to 112, with a mean IQ score of 68 which equates to a mild intellectual disability (average IQ is 100).
Can you be a carrier of Williams syndrome?
A person with Williams syndrome has a 50% chance of having a child with Williams syndrome while a parent with an inversion of the WS region has a 1 in 9500 chance (the same as for those without an inversion) of having a child with Williams syndrome. There is no such thing as being a “carrier” of Williams syndrome.
Are people with Williams syndrome fertile?
While people with WS typically have normal fertility, they frequently do not have children because of their health and intellectual disabilities. HOW IS WILLIAMS SYNDROME DIAGNOSED?