Brachydactyly-Nystagmus-Cerebellar Ataxia

Biemond (1934) described a syndrome consisting of brachydactyly (due to one short metacarpal and metatarsal), nystagmus and cerebellar ataxia in 4 generations of a family. Mental deficiency and strabismus were also present. Only a few members of the family had the full syndrome. Additional families are needed before this combination can be considered a single gene syndrome.