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Split hand split foot nystagmus
Other Names for this Disease
- Karsch-Neugebauer syndrome
- Split hand nystagmus syndrome
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congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good.Split hand split foot nystagmus is a rare
Last updated: 10/17/2013
- Wong SC, Cobben JM, Hiemstra S, Robinson PH, Heeg M. Karsch-Neugebauer Syndrome in Two Sibs with Unaffected Parents. American Journal of Medical Genetics. January 13, 1998; 75(2):207-210. http://www.ncbi.nlm.nih.gov/pubmed/9450888.
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.
- 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) database contains genetics resources that discuss Split hand split foot nystagmus. Click on the link to go to OMIM and review these resources.
- 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 Split hand split foot nystagmus. Click on the link to view a sample search on this topic.