What is Wolf-Hirschhorn syndrome WHS?
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability , low muscle tone ( hypotonia ), and seizures .
What is the life expectancy of someone with Wolf-Hirschhorn syndrome?
The average life expectancy is unknown. Muscle weakness may increase the risk of having chest infections and ultimately may reduce the life expectancy. Many people, in the absence of severe heart defects, chest infections, and uncontrollable seizures , survive into adulthood.
Who discovered WHS?
First clinically described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, the 4p deletion syndrome, or Wolf-Hirschhorn Syndrome (WHS), is the first example of a classic human chromosomal deletion syndrome.
What are the characteristics of Wolf-Hirschhorn syndrome?
Description. 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.
Can Wolf-Hirschhorn syndrome be treated?
There is no cure for Wolf-Hirschhorn syndrome, and every patient is unique, so treatment plans are tailored to manage the symptoms. Most plans will include: Physical or occupational therapy. Surgery to repair defects.
Can Wolf-Hirschhorn syndrome be detectable before birth?
Prenatal diagnosis of WHS is usually confirmed by detection of a cytogenetically visible 4p- deletion discovered after invasive testing performed because of advanced maternal age, severe IUGR (which is the most frequent ultrasound finding, associated or not with other fetal abnormalities), or known parental balanced …
Is Wolf-Hirschhorn syndrome detectable before birth?
What is the treatment for Wolf-Hirschhorn syndrome?
Why is it called Jacob’s syndrome?
What Causes XYY Syndrome? Boys who have XYY syndrome are born with it. It’s called XYY because they have an extra Y chromosome in most or all their cells. Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes.
Is WHS inherited?
WHS is inherited in an autosomal dominant pattern. This means inheriting one 4p16. 3 microdeletion is enough for an individual to be affected and show signs of WHS. In approximately 55% of cases, the deletion occurs brand new (de novo) in an affected child.
Are there prenatal tests for WHS?
Noninvasive prenatal testing (NIPT) is one very promising screening tool for WHS. SNP array can improve diagnostic precision for detecting WHS, especially for the cryptic aberrations that cannot be identified by the traditional karyotyping.