cataract-ataxia-deafness syndrome
MONDO:0008928
Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
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Cataract-ataxia-deafness syndrome
Cataract-ataxia-deafness syndrome is a very rare genetic disorder which is characterized by mild intellectual disabilities, congenital cataracts, progressive hearing loss, ataxia, peripheral neuropathy, and short height. Only two cases have been reported in medical literature. It was first described in December 1991, when Begeer et al. described two sisters in their 50s with the symptoms mentioned above. They had surgery when they were young to remove the cataracts, they started showing progressive deafness since they were 30 years old, one of the sisters was 152 cm tall and the other was 155 cm tall. Additional findings included absence of deep tendon reflexes and decreased sensation in the distal parts of the limbs. They (Begeer et al.) concluded that this case was part of a separate entity different from the ataxia-deafness-mental retardation syndrome since the patients had congenital cataracts, ataxia, and progressive deafness.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.