Hereditary Sensory And Autonomic Neuropathy With Deafness And Global Delay

This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.

Epidemiology

It has been described in four individuals from a consanguineous Lebanese family.

Clinical description

Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy.

Genetic counseling

Transmission appears to be autosomal recessive.