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Karsch-Neugebauer syndrome

Disease definition

Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.

ORPHA:2329

  • Synonym(s):
    • Split hand/split foot-nystagmus syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 183800
  • UMLS: -
  • MeSH: C537319
  • GARD: 4967
  • MedDRA: -

Additional information

Further information on this disease

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