What is the life expectancy of a child with Wolf-Hirschhorn syndrome?
The median survival time for de novo deletions was 34+ years while for translocation cases it was 18+ years. CONCLUSIONS—The mortality rate is lower than previously reported. There is a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases.
What does Wolf-Hirschhorn syndrome do?
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.
Is Wolf-Hirschhorn syndrome life threatening?
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.
What causes Hirschhorn syndrome?
What is the cause of Wolf-Hirschhorn syndrome? WHS is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes referred to and written as 4p-.
Why is it called Wolf-Hirschhorn syndrome?
The syndrome is named for the American Kurt Hirschhorn and German U. Wolf who independently found the 4p- chromosome abnormality in the 1960s.
What is the long term outlook for someone with Wolf-Hirschhorn syndrome?
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 people with Wolf-Hirschhorn syndrome talk?
Although most children with this syndrome are severely limited in communicative abilities, the school-based speech-language pathologist working with a special education caseload may encounter WHS children with smaller deletions (and thus less severe phenotypes) who may profit from speech language pathology services.
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 …
Can you prevent Wolf-Hirschhorn syndrome?
There is no cure for Wolf-Hirschhorn syndrome, and every patient is unique, so treatment plans are tailored to manage the symptoms.
How is Wolf-Hirschhorn diagnosed?
A diagnosis of WHS may be suggested by the characteristic facial appearance, growth failure, developmental delays, and seizures. The diagnosis is confirmed by detection of a deletion of the Wolf-Hirschhorn syndrome critical region (WHSCR) by cytogenetic (chromosome) analysis.