Wolff-Hirschhorn Syndrome (short chromosome aberration 4): causes, symptoms, diagnosis, treatment
Last reviewed: 20.11.2021
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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.
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