Brachydactyly-Nystagmus-Cerebellar Ataxia

Alternative Names

  • Biemond Syndrome
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

113400

Mode of Inheritance

?Autosomal dominant

Description

Brachydactyly-nystagmus-cerebellar ataxia is a syndrome involving brachydactyly with one short metacarpal and metatarsal, nystagmus and cerebellar ataxia. Patients also suffer mental deficiency and strabismus.

The syndrome was described in four generations of a single family. However, only few members have all the features of this disorder. The underlying genetic causes of this disorder are unknown.

 

Epidemiology in the Arab World

View Map

Other Reports

Kuwait

Farag et al. (1993) screened 400 institutionalized intellectually disabled patients (IQ less than 50) in Kuwait, of whom one patient was diagnosed with brachydactyly-nystagmus-cerebellar ataxia.

© CAGS 2024. All rights reserved.