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Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
Classification level: Disorder
- Split hand/split foot-nystagmus syndrome
<1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
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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