Wolf-Hirschhorn Syndrome 101

Genetics of the disorder:

• Wolf-Hirschhorn Syndrome is causes by a genetic error in the 4th chromosome, a deletion of genetic material near the end of the short (p) arm of chromosome 4. It can be inherited from the parent chromosome where there is a chromosomal translocation (rearrangement of parts between nonhomologous chromosomes).

Symptoms/Signs include:

• Distinctive facial features: small head, large forehead, broad-beaked nose, wide set (far-apart) eyes (resembles a “Greek warrior helmet”)
• Heart defects
• Malformations of hands and feet, chest, and spine
• difficulty eating and/or swallowing
• Low muscle tone
• Poor muscle development
• Mental retardation
• Seizures

Diagnosis and Detection:

• Children born with Wolf-Hirschhorn syndrome can be diagnosed by an ultrasound or by appearance at birth. The distinctive facial features are a major sign of the disorder. Tests such as renal ultrasonography that look at the kidneys, x-rays that look for bone and internal malformations, and magnetic resonance which produces images of the brain can also be taken to diagnose the disorder.

Treatment and therapy available:

• No treatment exists for the genetic disorder itself, but there are treatments available for the symptoms of the syndrome. Seizures can be treated with medication, and difficulty eating or swallowing can require a feeding tube. Physical therapy can help maintain muscle strength and mobility.

Prevalence in the Population:

• Wolf-Hirschhorn syndrome affects females more frequently than males, and occurs in people of all ethnic backgrounds. It is estimated to occur in 1 in 50,000 births.

Life Expectancy:

• The life expectancy is unknown, but is likely lower than an individual without the disorder. Many members of the disorder are in their 30’s and 40’s. The oldest person with the disorder was born in 1949.