National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Split hand split foot nystagmus

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Do children with Karsch-Neugebauer syndrome have other medical or cognitive issues?

The following information may help to address your question:


What are the symptoms of split hand split foot nystagmus?

People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits.[1] People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus.[2] Abnormalities of the teeth can occur rarely.[3]
Last updated: 10/17/2013

Do children with split hand split foot nystagmus have other medical or cognitive issues?

There have been very few reported cases of split hand split foot nystagmus to date, however mental and motor development seems to be normal.[4] Although not widely documented, this syndrome may be associated with orodental anomalies such as missing teeth, delayed tooth eruption, and abnormal size and shape of the teeth.[5] We are not aware of other common medical concerns.
Last updated: 10/17/2013

What is the prognosis for split hand split foot nystagmus?

In general, the prognosis of children with split hand split foot nystagmus seems to be favorable.[4] The degree of disability caused by the loss of function in the limbs and by the eye problems, is largely determined by the degree of severity of these defects.[4]
Last updated: 11/1/2013

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  1. D’Alton ME, Crombleholme TM, Bianchi DW. Ectrodactyly. Fetology. New York, NY: McGraw-Hill; 2000;
  2. Eye Movement - Uncontrollable. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/003037.htm. Accessed 10/17/2008.
  3. Mathian VM, Sundaram AM, Karunakaran R et al. J Pharm Bioallied Sci. August 2012; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467867/. Accessed 10/17/2013.
  4. 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.
  5. Mathian VM, Sundaram AM, Karunakaran R et al. An unusual occurrence of Karsch–Neugebauer syndrome with orodental anomalies. J Pharm Bioallied Sci. August 2012; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467867/. Accessed 10/17/2013.