Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • WHS
  • Wolf syndrome
  • Chromosome 4p syndrome
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
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Wolf-Hirschhorn syndrome
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My sister has two children that have been diagnosed with Wolf-Hirschhorn Syndrome. How common is it for a person to have more than one child with the syndrome? I am interested in getting a genetic test to see if I am a carrier. Will the test be covered by my insurance?  How much do they generally cost?



  • How common is it for a person to have more than one child with Wolf-Hirschhorn syndrome?  (Back to Top)

  • In most cases of Wolf-Hirschhorn syndrome, there is only one affected individual in a family. Between 85 percent and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited and occur in people with no history of the disorder in their family. In the remaining cases of this syndrome, an affected individual inherits an abnormal chromosome 4 from a parent. A genetic test called a chromosome analysis can determine if one of the parents carries a chromosomal rearrangement between chromosome 4 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Some people with Wolf-Hirschhorn syndrome inherit an unbalanced translocation that deletes genes near one end of chromosome 4. A loss of these genes results in the intellectual disability, slow growth, and other health problems characteristic of Wolf-Hirschhorn syndrome.[1]

    If a parent is found to have a balanced translocation involving chromosome 4, they may be at risk of having additional children with Wolf-Hirschhorn syndrome. Once a translocation is found, other family members can also be tested to see if they are carriers of the same balanced translocation.
  • Last Reviewed: 5/5/2009

  • Is chromosome analysis covered by insurance? How much does it cost? (Back to Top)

  • The cost of chromosome analysis varies depending on which laboratory conducts the testing. It may or may not be covered by insurance. If you are interested in genetic testing, we recommend that you consult with a genetics professional.
  • Last Reviewed: 5/5/2009

  • How can I find a genetics professional in my community?  (Back to Top)

  • Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

    The following online resources can also help you find a genetics professional in your community:

      * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
    http://www.geneclinics.org/

      * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
    http://www.nsgc.org/resourcelink.asp

      * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
    http://www.kumc.edu/gec/prof/genecntr.html


  • Last Reviewed: 5/5/2009


References  (Back)
  1. Wolf-Hirschhorn syndrome. Genetic Home Reference Website. January 2009 Available at: http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome. Accessed May 5, 2009.

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