Olivopontocerebellar atrophy-deafness syndrome | |
---|---|
Specialty | Medical genetics |
Complications | Hearing impairment, cerebellar ataxia |
Usual onset | Infancy |
Duration | Lifelong |
Causes | Genetic mutation |
Risk factors | Being of Omani ancestry |
Prevention | none |
Deaths | - |
Olivopontocerebellar atrophy-deafness syndrome is a rare genetic disorder characterized by olivopontocerebellar atrophy which begins in infancy, sensorineural hearing loss, and speech delay. Additional findings include cerebellar ataxia. Inheritance pattern varies among families. [1] [2] [3] [4]
It has been described in 11 Omani children. The pedigrees of these children couldn't identify a solid mode of inheritance: 8 of the 11 children were suspected to be sporadic cases, while the pedigrees of 3 of the 11 children pointed to autosomal recessive inheritance. [5]
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