Medicine:Biemond syndrome
From HandWiki
| 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
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
Treatment
History
It was first described in 1934 by Dutch neurologist Arie Biemond (1902–1973). It has not been described since.[1][2]
References
- ↑ 1.0 1.1 "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". https://omim.org/entry/113400.
- ↑ Beighton, Greta (2012-12-06) (in en). The Person Behind the Syndrome. Springer Science & Business Media. pp. 83. ISBN 978-1-4471-0925-9. https://books.google.com/books?id=d0cIBgAAQBAJ&pg=PT83.
External links
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