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
- Developmental delay
- Intellectual deficit
Wolfhirschhorn.org – Wolf-Hirschhorn syndrome