Corneal-cerebellar syndrome

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.

Also known as: Der Kaloustian-Jarudi-Khoury syndrome, corneal-cerebellar syndrome, spinocerebellar degeneration-corneal dystrophy syndrome, Der Kaloustian Jarudi Khoury syndrome, corneal cerebellar syndrome, corneal dystrophy with spinocerebellar Degeneration, spinocerebellar degeneration and corneal dystrophy, spinocerebellar degeneration corneal dystrophy

0 clinical trials for this condition and its sub-types, 0 tagged with Corneal-cerebellar syndrome itself.