Biemond syndrome

Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability.

Biemond syndrome
Other namesBrachydactyly–nystagmus–cerebellar ataxia syndrome

Signs and symptoms

The family described by Biemond had a few members across four generations who had brachydactyly (due to one short metacarpal and metatarsal), nystagmus, strabismus, cerebellar ataxia and intellectual disability. Some of the members did not have the full syndrome.[1]

Diagnosis

History

It was first described in 1934 by Dutch neurologist Arie Biemond (1902–1973). It has not been described since.[1][2]

References
  1. "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". omim.org. Retrieved 2019-12-23.
  2. Beighton, Greta (2012-12-06). The Person Behind the Syndrome. Springer Science & Business Media. p. 83. ISBN 978-1-4471-0925-9.
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