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Waardenburg syndrome


Other Names for this Disease
  • Mende Syndrome
  • Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
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Overview


Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.[1]

Waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. In addition, hearing loss occurs more often in people with type 2 than in those with type 1. Waardenburg syndrome type 3 (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Waardenburg syndrome type 4 (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.[1]

Last updated: 4/18/2011

References

  1. Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/19/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Waardenburg syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic. 
  • 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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Waardenburg syndrome. Click on the link to view a sample search on this topic.