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