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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 is a genetic condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. Most cases of this disorder are not inherited, although sometimes Wolf-Hirschhorn syndrome is inherited from an unaffected parent.[1]
Last updated: 5/5/2009

References

  1. Wolf-Hirschhorn syndrome. Genetics Home Reference Website. January 2009; http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome. Accessed 11/16/2011.
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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

  • 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.