Biemond syndrome
(Redirected from Biemond syndrome type 1)
| Biemond syndrome | |
|---|---|
| Other names | Brachydactyly–nystagmus–cerebellar ataxia syndrome |
Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability.
Signs and symptoms
[edit]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
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (January 2018) |
Treatment
[edit] | This section is empty. You can help by adding to it. (January 2018) |
History
[edit]It was first described in 1934 by Dutch neurologist Arie Biemond (1902–1973). It has not been described since.[1][2]
References
[edit]- ^ a b "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". omim.org. Retrieved 2019-12-23.
- ^ Beighton, Greta (2012-12-06). The Person Behind the Syndrome. Springer Science & Business Media. p. 83. ISBN 978-1-4471-0925-9.
External links
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