Split hand split foot-nystagmus syndrome

From WikiProjectMed
Jump to navigation Jump to search
Split hand split foot-nystagmus syndrome
Autosomal dominant - en.svg
SpecialtyMedical genetics
SymptomsLobster claw deformity of the hands and feet with nystagmus and other eye anomalies
ComplicationsUsually, none
Usual onsetBirth
DurationLifelong
CausesGenetic mutation
Risk factorsHaving a parent with the condition
PreventionNone
PrognosisGood
FrequencyOnly 10 cases from 4 families have been described in medical literature
Deaths-

Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome[1][2] is a rare genetic disorder which is characterized by the absence of the central rays of the hands and foot resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts.[3]

It is inherited in an autosomal dominant manner.[4][5][6]

Only 10 cases from 4 families[7][8][9] worldwide have been described in medical literature.[10]

Image showing upper limb of affected individual

References

  1. "Karsch-Neugebauer syndrome (Concept Id: C1866740) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 20 October 2023. Retrieved 27 September 2023.
  2. "Karsch-Neugebauer syndrome", Definitions, Qeios, 2020-02-10, doi:10.32388/vgwdht, S2CID 28321375, archived from the original on 2022-07-01, retrieved 2022-07-01
  3. "Orphanet: Karsch Neugebauer syndrome". www.orpha.net. Archived from the original on 2010-12-27. Retrieved 2022-07-01.
  4. Sensory 5. "Split hand split foot nystagmus | Rare Diseases". RareGuru. Archived from the original on 2022-07-01. Retrieved 2022-07-01.
  5. "Nystagmus-Split Hand Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Archived from the original on 2021-06-25. Retrieved 2022-07-01.
  6. "Split hand split foot nystagmus - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2021-11-23. Retrieved 2022-07-01.
  7. Neugebauer, H. (1962-04-01). "[Split hand and foot with familial occurrence]". Zeitschrift für Orthopädie und Ihre Grenzgebiete. 95: 500–506. ISSN 0044-3220. PMID 14479171. Archived from the original on 2022-07-01. Retrieved 2022-07-01.
  8. Pilarski, R. T.; Pauli, R. M.; Bresnick, G. H.; Lebovitz, R. M. (1985-01-01). "Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus". Clinical Genetics. 27 (1): 97–101. doi:10.1111/j.1399-0004.1985.tb00191.x. ISSN 0009-9163. PMID 3978843. S2CID 24460860. Archived from the original on 2022-07-01. Retrieved 2022-07-01.
  9. Wong, S. C.; Cobben, J. M.; Hiemstra, S.; Robinson, P. H.; Heeg, M. (1998-01-13). "Karsch-Neugebauer syndrome in two sibs with unaffected parents". American Journal of Medical Genetics. 75 (2): 207–210. doi:10.1002/(sici)1096-8628(19980113)75:2<207::aid-ajmg18>3.0.co;2-t. ISSN 0148-7299. PMID 9450888. Archived from the original on 2022-07-01. Retrieved 2022-07-01.
  10. "Entry - 183800 - Split-hand with congenital cataracts, fundal changes, and cataracts - OMIM". omim.org. Archived from the original on 2021-02-25. Retrieved 2022-07-01.