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Karsch-Neugebauer syndrome

Orpha number ORPHA2329
Synonym(s) Split hand/split foot - nystagmus
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.2
ICD-O -
OMIM
UMLS -
MeSH
  • C537319
MedDRA -
SNOMED CT -

Summary

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

Ten cases from four families have been reported in the literature.

In some cases the hands are monodactylous. The affected patients have normal mental development.

The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.


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