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.
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.
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.
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.
Agatino Battaglia is in Pisa, Italy. Battaglia is rated as an Elite expert by MediFind in the treatment of Wolf-Hirschhorn Syndrome. They are also highly rated in 12 other conditions, according to our data. Their top areas of expertise are Wolf-Hirschhorn Syndrome, Filippi Syndrome, Early Infantile Epileptic Encephalopathy, and Hypotonia.
Marcella Zollino is in Rome, Italy. Zollino is rated as an Elite expert by MediFind in the treatment of Wolf-Hirschhorn Syndrome. She is also highly rated in 29 other conditions, according to our data. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Ring Chromosome 14, Pitt-Hopkins Syndrome, and Smith-Magenis Syndrome.
Raquel Lago-Blanco is in Oviedo, Spain. Lago-Blanco is rated as a Distinguished expert by MediFind in the treatment of Wolf-Hirschhorn Syndrome. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Glucose Transporter Deficiency, Epilepsy in Children, and Intrauterine Growth Restriction.
Published Date:updated Last, April
Published By: National Institutes of Health
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