It's a genetic defect caused by a deletion of about 26 genes from the long arm of chromosone 7.
Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an
affinity for music.
Williams syndrome 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.
Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing. Parents often say they could not have imagined the joy and perspective their child with Williams syndrome has brought into their lives. Nearly everyone with Williams syndrome loves music, and for some, there is a musicality and eventual talent for music that is far greater than would be expected based on general functioning levels.
There are major struggles as well. Many babies have life-threatening cardiovascular problems.Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential. Just as important are opportunities for social interaction. Adults with Williams syndrome often experience intense isolation which can lead to depression. They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don't process nuanced social cues and this makes it difficult to form lasting relationships.
Other characteristics common to Williams syndrome are:
Hypercalcemia (elevated blood calcium levels)
Low birth-weight / slow weight gain
Feeding problems
Dental abnormalities
Kidney abnormalities
Hernias
Hyperacusis (sensitive hearing)
Musculoskeletal problems
Information provided by the Williams Syndrome Association (WSA). For additional information, please visit the WSA's web site at http://www.williams-syndrome.org
umm im not really sure but its caused by missing genes like elastin which is one of the 25 of them
Deletion Mutation causes DiGeorges Syndrome.
Tourette syndrome is believed to be a complex disorder with a combination of genetic and environmental factors contributing to its development. It is not caused by a single mutation, but rather likely involves several genetic variations that increase susceptibility to the disorder.
Nondisjunction, or sending both chromosomes to one cell during meiosis.
Yes, a point mutation will cause the cell to make an incompelete polypeptide chain that is non-functional, if the mutation results in a stop codon. This type of a mutation is also called as the Nonsense Mutation.
The mutation that causes Autism is a rare genetic mutation. There are three different genes that are linked to the cause of different disorders on the Autism Spectrum.
An extra copy of Chromosome 18
No. The type of shaking in an earthquake is not the same as the type needed to cause shaken baby syndrome.
Mutations in the hemoglobin molecules cause sickle cell anemia.
Down's syndrome is caused by trisomy of the 21st chromosome. This is mostly caused when the chromosome pair fails to separate properly (nondisjunction).
There is no single type of mutation that causes Hemophilia A. It is not the type of mutation but rather the location of the mutation within the genetic code.
It is a mutation/
No, albinism is a genetic mutation, not a generation-type of mutation, that also means a non-albino couple can have the chance of giving birth to an albino baby, it's a really random and rare mutation.