Biemond syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Biemond syndrome is a very rare congenital disease with the main features of brachydactyly , nystagmus and cerebellar ataxia .
The name refers to the author of the first description from 1934 by the neurologist Arie Biemond.
Not to be confused is the more common Biemond syndrome II (hypogonadism-short stature-coloboma-preaxial polydactyly syndrome) or Biemond ataxia
distribution
The frequency is given as less than 1 in 1,000,000, the cause and possible mode of inheritance are not known.
Clinical manifestations
Clinical criteria are:
- Brachydactyly
- Nystagmus
- cerebellar ataxia
- partial mental retardation and / or strabismus
Differential diagnosis
To be delimited is u. a. the Gillespie syndrome .
Individual evidence
- ↑ a b c Brachydactyly - nystagmus - cerebellar ataxia. In: Orphanet (Rare Disease Database).
- ↑ A. Biemond: brachydactylous, nystagmus en cerebellaire ataxia as familiair Syndroom. In: Nederlands Tijdschrift voor geneeskunde Vol. 78, pp. 1423–1431, 1934.
- ^ A. Verloes, IK Temple, S. Bonnet, A. Bottani: Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. In: American journal of medical genetics. Volume 69, Number 4, April 1997, pp. 370-379, PMID 9098485 .
- ^ Posterior Column Ataxia. In: Online Mendelian Inheritance in Man . (English).
