Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus.
A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch-Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorder.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome