Archive for the 'Williams Syndrome' Category

 

Personal Stories of Williams Syndrome

Friday, August 31st, 2007

While pregnant with Paige (our 3rd child), toward the end of the pregnancy we noticed I had stopped growing. Stress tests and ultrasounds all were normal, so the doctor decided to induce me just 2 days early because of her poor growth in utero.
During the birth, I had a placenta abruption, and Paige had to [...]

What Is the Life Expectancy with Williams Syndrome

Friday, August 31st, 2007

Most individuals with WS master self help skills and complete academic and/or vocational schools. They are employed in many types of settings and while many individuals with WS live with their parents, some are able to live in supervised housing or on their own.
The pleasure found in talking is considerably less as the individual reaches [...]

Williams Syndrome Complications

Friday, August 31st, 2007

Blood vessel narrowing can cause heart failure.

Abdominal pain is common for a variety of reasons.

Elevated calcium can lead to calcium deposits in the kidney and other kidney problems.

There have been rare cases of children with Williams syndrome having complications, including death, with anesthesia.

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Other names of Williams syndrome

Thursday, August 16th, 2007

* WS* WBS* WMS* Beuren syndrome* Elfin Facies Syndrome* Infantile hypercalcemia* Williams-Beuren Syndrome* Elfin facies with hypercalcemia* Supravalvar aortic stenosis syndrome* Hypercalcemia-Supravalvar Aortic Stenosis

The gene related to Williams syndrome

Thursday, August 16th, 2007

Williams syndrome is a chromosomal condition related to chromosome 7.
The CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes are associated with Williams syndrome.
Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of [...]

Genetic Causes of Williams syndrome

Thursday, August 16th, 2007

Williams syndrome is a genetic condition that is a cause of mental retardation. It is a relative newcomer on the causes-of-retardation scene, as it was not identified as a distinct condition until 1961. The cause of the disorder is a mutation of chromosome 7; a fragment of chromosome 7 is missing in the individual’s genetic [...]

Nomenclature of Williams syndrome

Thursday, August 16th, 2007

The first descriptions of WS were incomplete in that they reflected the chief complaint of the individual or the medical specialty of the observer. Thus, nephrologists and endocrinologists described “idiopathic infantile hypercalcemia” (IHC) and cardiologists reported “supravalvular aortic stenosis syndrome” (SASS).
Early reports also noted dysmorphic facial features which were thought to resemble elves of legend, [...]

Natural History of Williams syndrome

Thursday, August 16th, 2007

Infancy. The infant with WS is often born post-term, and is small for the family background. Feeding difficulties leading to failure to thrive are common, including gastro-esophageal (G-E) reflux, disordered suck and swallow, textural aversion, and vomiting. Prolonged colic (>4 months) may be related to G-E reflux, chronic constipation, and/or idiopathic hypercalcemia, which occurs in [...]

Treatment of Williams Syndrome

Thursday, August 16th, 2007

There is no cure for Williams syndrome. Supplemental calcium and vitamin D should be avoided. It is important to treat high levels of blood calcium if present. The blood vessel narrowing can be a significant health problem and is treated based on severity.
Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy [...]