What is WHS syndrome?
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 .
Is Wolf-Hirschhorn syndrome life ending?
The long-term outlook ( prognosis ) for people with Wolf-Hirschhorn syndrome (WHS) depends on the specific features present and the severity of those features. The average life expectancy is unknown. Muscle weakness may increase the risk of having chest infections and ultimately may reduce the life expectancy.
Can a person with Wolf-Hirschhorn syndrome have children?
A loss of these genes results in the intellectual disability , slow growth, and other health problems characteristic of Wolf-Hirschhorn syndrome. If a parent is found to have a balanced translocation involving chromosome 4, they may be at risk of having additional children with Wolf-Hirschhorn syndrome.
How common is WHS?
WHS is an extremely rare disorder. Studies undertaken about 25 years ago suggested that the disorder occurred in approximately 1 in about 50,000 live births with a female to male ratio of 2:1. More recent studies suggest that the frequency of the disorder is underestimated because of misdiagnosis.
How 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.
Is Wolf-Hirschhorn syndrome 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 inherited?
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.
Can people with Wolf-Hirschhorn syndrome reproduce?
If I have a baby with Wolf-Hirschhorn syndrome, what is the chance I will have another baby with this condition? Because most cases (85-90%) of Wolf-Hirschhorn syndrome are caused by a de novo deletion on chromosome 4, there is not expected to be a high chance of having another child with it.
Is Wolf-Hirschhorn syndrome a genetic disease?
Is Wolf-Hirschhorn Syndrome a genetic disease?
How many people have WHS?
The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births, and it occurs in individuals of all ethnic backgrounds. However, this number may be an underestimate because of the diversity of symptoms, misdiagnosis or rarity of diagnosis, and WHS not being an inherited condition.
How long do children with Wolf Hirschhorn syndrome live?
Often consequences of Wolf Hirschhorn syndrome are stillbirth or fatality within the initial year. Most of the children suffering from Wolf Hirschhorn syndrome have only two years of life span after birth, because of complication arises due to the presence of a cardiac problem, aspiration pneumonia, seizure attacks or other severe infection.
What was the mortality rate for WHS in 1976?
A review of 43 cases of WHS in 1976 gave a mortality of 34% in the first two years of life. 4 This figure is still widely quoted in standard genetic texts and is used by medical staff when counselling parents about long term prognosis. There are several reasons why this might need to be revised.
What is the treatment of Wolf Hirschhorn syndrome?
Wolf Hirschhorn Syndrome is noncurable disease and treatment is based on supportive care. The foremost important treatment approach for patients suffering from Wolf Hirschhorn Syndrome are symptomatic management. A team of multidisciplinary experts is required for management of the Wolf-Hirschhorn Syndrome.
How does muscle weakness affect life expectancy in adults?
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.