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.
MONDO:0100309
hereditary ataxia
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0004884
eye degenerative disorder
is_a
MONDO:0005071
nervous system disorder
is_a
Der Kaloustian Jarudi Khoury syndrome
related
Der Kaloustian-Jarudi-Khoury syndrome
exact
corneal cerebellar syndrome
related
corneal-cerebellar syndrome
exact
spinocerebellar degeneration corneal dystrophy
related
spinocerebellar degeneration-corneal dystrophy syndrome
exact