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Genetic and Rare Diseases Information Center (GARD)

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Wolf-Hirschhorn syndrome


Other Names for this Disease

  • 4p syndrome
  • Chromosome 4p syndrome
  • Distal deletion 4p
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
  • WHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Wolf-Hirschhorn syndrome (WHS) is a genetic condition that affects many parts of the body. The major features include a characteristic facial appearance; delayed growth and development; intellectual disability; low muscle tone (hypotonia); and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. WHS is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). The size of the deletion varies among affected people, and studies suggest that larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from an unaffected parent.[1][2]
Last updated: 12/4/2014

References

  1. Wolf-Hirschhorn syndrome. Genetics Home Reference Website. January 2009; http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome. Accessed 11/16/2011.
  2. Agatino Battaglia, John C Carey, Sarah T South, and Tracy J Wright. Wolf-Hirschhorn Syndrome. GeneReviews. June 17, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1183/. Accessed 12/4/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Wolf-Hirschhorn syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wolf-Hirschhorn syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • 4p syndrome
  • Chromosome 4p syndrome
  • Distal deletion 4p
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
  • WHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.