What are the chances of getting 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 gene is deleted in Williams syndrome?
CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and heart disease in many people with this condition.
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.
What makes William syndrome differ from other syndromes?
Differential Diagnosis Williams syndrome (WS) should be distinguished from other syndromes characterized by developmental delay, attention deficit hyperactivity disorder, short stature, distinctive facies, and/or congenital heart disease.
What are the characteristics of 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.
Why are Williams syndrome people so happy?
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.
Why do people get Williams syndrome?
Williams syndrome is caused by a missing segment (a ‘deletion’) of genetic material on chromosome 7. These deletions occur randomly. About one in every 20,000 babies is born with Williams syndrome. Males and females are equally affected, and the condition is found across all races and countries.
Are people with Williams syndrome nice?
A rare genetic condition brings with it an unforgettable personality. Part 1: Children with Williams Syndrome may be the friendliest you’ll ever meet.
What are the signs and symptoms of Williams syndrome?
What are the 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.
How does Williams syndrome affect a person?
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Is Williams syndrome a learning disability?
How does Williams syndrome affect someone? As well as a learning disability, people with Williams syndrome will often share distinctive facial characteristics including a wide mouth with a pronounced bottom lip, slightly high and rounded cheeks, and widely-spaced teeth.