Split hand split foot-nystagmus syndrome explained

Split hand split foot-nystagmus syndrome
Synonym:-->
Symptoms:Lobster claw deformity of the hands and feet with nystagmus and other eye anomalies
Complications:Usually, none
Onset:Birth
Duration:Lifelong
Risks:Having a parent with the condition
Prevention:None
Prognosis:Good
Frequency:Only 10 cases from 4 families have been described in medical literature
Deaths:-

Split hand split foot-nystagmus syndrome, also known as Karsch–Neugebauer syndrome, 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.[1] It is inherited in an autosomal dominant manner.[2] [3] [4] Only 10 cases from 4 families[5] [6] [7] worldwide have been described in medical literature.[8]

Notes and References

  1. Web site: Orphanet: Karsch Neugebauer syndrome . 2022-07-01 . www.orpha.net . en . 2010-12-27 . https://web.archive.org/web/20101227145821/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2329 . live .
  2. Web site: Sensory 5 . Split hand split foot nystagmus Rare Diseases . 2022-07-01 . RareGuru . en . 2022-07-01 . https://web.archive.org/web/20220701210513/https://rareguru.com/library/disease/5458/split-hand-split-foot-nystagmus . live .
  3. Web site: Nystagmus-Split Hand Syndrome Hereditary Ocular Diseases . 2022-07-01 . disorders.eyes.arizona.edu . 2021-06-25 . https://web.archive.org/web/20210625072035/https://disorders.eyes.arizona.edu/disorders/nystagmus-split-hand-syndrome . live .
  4. Web site: Split hand split foot nystagmus - About the Disease - Genetic and Rare Diseases Information Center . 2022-07-01 . rarediseases.info.nih.gov . en . 2021-11-23 . https://web.archive.org/web/20211123144251/https://rarediseases.info.nih.gov/diseases/4967/split-hand-split-foot-nystagmus . live .
  5. Neugebauer . H. . 1962-04-01 . [Split hand and foot with familial occurrence] ]. Zeitschrift für Orthopädie und Ihre Grenzgebiete . 95 . 500–506 . 0044-3220 . 14479171 . 2022-07-01 . 2022-07-01 . https://web.archive.org/web/20220701210506/https://pubmed.ncbi.nlm.nih.gov/14479171/ . live .
  6. 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 . 10.1111/j.1399-0004.1985.tb00191.x . 0009-9163 . 3978843 . 24460860 . 2022-07-01 . 2022-07-01 . https://web.archive.org/web/20220701210505/https://pubmed.ncbi.nlm.nih.gov/3978843/ . live .
  7. 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 . 10.1002/(sici)1096-8628(19980113)75:2<207::aid-ajmg18>3.0.co;2-t . 0148-7299 . 9450888 . 2022-07-01 . 2022-07-01 . https://web.archive.org/web/20220701210506/https://pubmed.ncbi.nlm.nih.gov/9450888/ . live .
  8. Web site: Entry - 183800 - Split-hand with congenital cataracts, fundal changes, and cataracts - OMIM . 2022-07-01 . omim.org . en-us . 2021-02-25 . https://web.archive.org/web/20210225201933/https://omim.org/entry/183800#2 . live .

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