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What is Wolf-Hirschhorn Syndrome

Result of chromosome 4 error


Updated October 04, 2013

Wolf-Hirschhorn syndrome is the result of a genetic error on chromosome 4. In 87% percent of individuals, there is no family history of the disorder. 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.

Wolf-Hirschhorn syndrome causes malformations in most parts of the body because the genetic error affects fetal growth and development. Symptoms may include:

  • Distinctive facial features - prominent forehead, wideset eyes, and broad beaked nose, collectively described as "Greek warrior helmet" features
  • Brain and muscles - profound mental retardation, small head, seizures (50% of individuals), low muscle tone, poor muscle development
  • Bones - very short stature, facial deformities, malformations of hands and feet, chest, and spine
  • Heart defects
  • Urinary and genitals - malformations or underdevelopment of organs

Children born with Wolf-Hirschhorn syndrome may be diagnosed by ultrasound in utero or by appearance at birth. The distinctive facial features are an immediate clue to the presence of the syndrome. Genetic testing can confirm the diagnosis.

Additional tests, such as x-rays to look for bone and internal malformations, renal ultrasonography to examine the kidneys, and magnetic resonance imaging of the brain, are important.

Since no treatment exists for the underlying genetic disorder, treatment for Wolf-Hirschhorn syndrome focuses on the symptoms present. For exampe, seizure disorder would be treated with medication, and difficulty eating or swallowing might require a gastrostomy feeding tube. Physical and occupational therapy can help maintain muscle strength and joint mobility. Care by many different specialists may be needed.

The risk of a parent having another child with Wolf-Hirschhorn syndrome is unlikely unless the parent is a carrier for the disorder.

Information for this article was taken from:
Chen, H. (2003). Wolf-Hirschhorn syndrome. eMedicine, accessed at http://www.emedicine.com/ped/toppic2446.htm

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