Search for a rare disease
Other search option(s)
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.