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Wolf-Hirschhorn syndrome – 4p16.3 deletion

Wolf-Hirschhorn syndrome is a genetic disorder caused by the loss of a fragment of the p arm of chromosome 4 (4p16.3 region).

The prevalence is estimated at 1 in 50,000 births. Life expectancy is limited, around a third of the children affected die in the first years of life.

Most frequent clinical findings in patients with Wolf-Hirschhorn syndrome – 4p16.3 deletion:

  • Small stature
  • Weak muscle tone
  • Convulsions (these tend to reduce with age)
  • Congenital cardiac defects and renal abnormalities
  • Absence of one or both testicles in the scrotum
  • Immunodeficiency
  • Developmental delay
  • Intellectual deficit

Additional information

Wolfhirschhorn.org – Wolf-Hirschhorn syndrome

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