Medical expert of the article
New publications
Wolff-Hirschhorn Syndrome (short chromosome aberration 4): causes, symptoms, diagnosis, treatment
Last reviewed: 20.11.2021
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Wolff-Hirschhorn syndrome is described in more than 150 publications.
What causes the Wolf-Hirschhorn syndrome?
Deletion of the short arm of chromosome 4 occurs more often sporadically, in 13% of cases it is the result of translocation in one of the parents.
Symptoms of Wolf-Hirschhorn Syndrome
- The unusual structure of the skull ("the helmet of the ancient warrior").
- Direct nose bridge and hypertelorism.
- Postnatal delay of physical development.
- Delay in psychomotor development.
- Convulsive syndrome.
Often diagnosed multiple developmental defects: microcephaly, hypospadias in boys and hypoplasia of muller's derivatives in girls, non-spreading of the upper lip, palate or tongue, preauric fistula of the auricles, defects in dermal skin development, congenital heart and kidney defects.
How to recognize Wolf-Hirschhorn syndrome?
A cytogenetic study is performed to verify the deletion of the short arm of the chromosome 4.
Treatment of Wolf-Hirschhorn syndrome
Wolff-Hirschhorn syndrome is treated symptomatically. Genetic counseling is shown.
What is the prognosis of the Wolf-Hirschhorn syndrome?
Wolff-Hirschhorn syndrome with high mortality in the first year of life. The surviving children are marked by deep mental retardation.