Rare Pulmonology News

Disease Profile

Split hand split foot nystagmus

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Split hand nystagmus syndrome; Karsch-Neugebauer syndrome; KNS

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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]

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.

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

Organizations

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.

      Learn more

      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.

          References

          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. https://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; https://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; https://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; https://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.

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