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Wolf-Hirschhorn syndrome (chromosome 4 short arm deletion syndrome): causes, symptoms, diagnosis, treatment
Last reviewed: 04.07.2025
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Wolf-Hirschhorn syndrome has been described in more than 150 publications.
What causes Wolf-Hirschhorn syndrome?
Deletion of the short arm of chromosome 4 most often occurs sporadically; in 13% of cases it is the result of a translocation in one of the parents.
Symptoms of Wolf-Hirschhorn Syndrome
- Unusual skull structure ("ancient warrior's helmet").
- Straight nasal bridge and hypertelorism.
- Postnatal growth retardation.
- Delayed psychomotor development.
- Convulsive syndrome.
Multiple malformations are often diagnosed: microcephaly, hypospadias in boys and hypoplasia of the Müllerian derivatives in girls, cleft lip, palate or uvula, preauricular fistulas of the auricles, developmental defects of the dermal skin, 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 chromosome 4.
Treatment of Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome is treated symptomatically. Genetic counseling is indicated.
What is the prognosis for Wolf-Hirschhorn syndrome?
Wolf-Hirschhorn syndrome with high mortality in the first year of life. Surviving children have profound mental retardation.
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