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Karsch-Neugebauer syndrome

Synonym(s) Split hand/split foot-nystagmus syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q87.2
  • C537319
MedDRA -


Disease definition

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.

Clinical description

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

Genetic counseling

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

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