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


Other Names:
Split hand nystagmus syndrome; Karsch-Neugebauer syndrome; KNS
Categories:
Split hand split foot nystagmus is a rare 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.[1]
Last updated: 10/17/2013
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.[2] People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus.[3] Abnormalities of the teeth can occur rarely.[4]
Last updated: 10/17/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Congenital nystagmus 0006934
Hand monodactyly 0004058
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Retinopathy
Noninflammatory retina disease
0000488
Split foot
Lobster-claw foot deformity
Split-foot
[ more ] 		0001839
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
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Last updated: 7/1/2020
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.[5] 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
In general, the prognosis of children with split hand split foot nystagmus seems to be favorable.[1] 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.[1]
Last updated: 11/1/2013

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for limb differences.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Split hand split foot nystagmus. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

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


  1. 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.
  2. D’Alton ME, Crombleholme TM, Bianchi DW. Ectrodactyly. Fetology. New York, NY: McGraw-Hill; 2000;
  3. Eye Movement - Uncontrollable. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/003037.htm. Accessed 10/17/2008.
  4. 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.
  5. What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. January 25, 2016; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.