What is 4p deletion (Wolf-Hirschhorn syndrome)?

4p deletion (Wolf-Hirschhorn syndrome) is caused by a deletion of a piece of chromosome 4. This missing genetic material results in severe developmental delays, a characteristic facial appearance, and multiple birth defects. These can include heart defects, hearing impairment, and eye problems. Most children who have 4p deletion (Wolf-Hirschhorn syndrome) have seizures.

How common is 4p deletion (Wolf-Hirschhorn syndrome)?

The incidence of 4p deletion (Wolf-Hirschhorn syndrome) in the population is estimated to be approximately 1 in 50,000 births.

How is 4p deletion (Wolf-Hirschhorn syndrome) treated?

There is no cure for 4p deletion (Wolf-Hirschhorn syndrome). Treatment for the condition is directed at managing the specific symptoms an individual has. This often means receiving care through a team of specialists to address feeding problems, seizures, skeletal abnormalities, heart defects, developmental delays, and hearing and vision problems.

What is the prognosis for a person with 4p deletion (Wolf-Hirschhorn syndrome)?

The prognosis for an individual with 4p deletion (Wolf-Hirschhorn syndrome) depends on the severity of their symptoms. Some individuals with the condition do not survive into adulthood, while others may live well into their 40s or 50s. It has been estimated that approximately 35% of affected individuals die within the first two years of life. Virtually all individuals who survive after this period have developmental delays and will need support their entire lives.

Other names for
4p deletion

  • Wolf-Hirschhorn syndrome

References

  • Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69.
  • Battaglia, et al., 2015, Am J Med Genet C Semin Med Genet., 169(3):216-23, PMID: 26239400
  • Paradowska-Stolarz, 2014, Adv Clin Exp Med., 23(3):485-9, PMID: 24979523