/agenesis of the corpus callosum with peripheral neuropathy

agenesis of the corpus callosum with peripheral neuropathy

Rare Disease

MONDO:0000902

Also Known As

Andermann syndromeCharlevoix diseaseagenesis of the corpus callosum with peripheral neuropathycorpus callosum agenesis-neuronopathy syndromehereditary motor and sensory neuropathy with agenesis of the corpus callosumperipheral neuropathy associated with agenesis of the corpus callosumACCPNHMSN/ACCagenesis of corpus callosum with neuronopathyagenesis of corpus callosum with peripheral neuropathyagenesis of corpus callosum with polyneuropathycorpus callosum agenesis neuronopathycorpus callosum, agenesis of, with neuronopathypolyneuropathy, sensorimotor, with or without agenesis of the corpus callosum

Definition

Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.