Learn About Wolf-Hirschhorn Syndrome

What is the definition of Wolf-Hirschhorn Syndrome?

Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

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What are the causes of Wolf-Hirschhorn Syndrome?

Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.

How prevalent is Wolf-Hirschhorn Syndrome?

The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed.

Is Wolf-Hirschhorn Syndrome an inherited disorder?

Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de novo events, which may help explain the variability in the condition's signs and symptoms. De novo chromosomal changes occur in people with no history of the disorder in their family.

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What are the latest Wolf-Hirschhorn Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
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An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001)
Summary: A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Pitt Hopkins Syndrome.
Who are the sources who wrote this article ?

Published Date: April 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Wolf-Hirschhorn Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.