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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Split hand split foot nystagmus


Other Names for this Disease

  • Karsch-Neugebauer syndrome
  • KNS
  • Split hand nystagmus syndrome
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Inheritance

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How is split hand split foot nystagmus inherited?

Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children.[1] Click here to learn more about autosomal dominant inheritance.

Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mother’s egg or father’s sperm, or in the fertilized egg itself.

In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism.
Last updated: 11/1/2013

References
  1. What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.


Other Names for this Disease
  • Karsch-Neugebauer syndrome
  • KNS
  • Split hand nystagmus syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.