Spinocerebellar Ataxia with Dysmorphism

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

271270

Mode of Inheritance

Autosomal recessive

Description

Spinocerebellar Ataxia with Dysmorphism is marked by unusual facial appearance associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Facial characters include a coarse facies with a wide forehead, mild palpebral ptosis, small nose with anteverted nares, thick lips, and downturned corners of the mouth. Affected patients have an abundance of rough hair. To date, less than five patients have been reported with this disorder worldwide.

Molecular Genetics

The condition appears to follow an autosomal recessive pattern of inheritance. The underlying genetic basis is not understood.

Epidemiology in the Arab World

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Other Reports

Kuwait

Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986-1990). Two patients were diagnosed with Spinoverebellar Ataxia with Dysmorphism.

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