Spinocerebellar degeneration-corneal dystrophy syndrome
Synonyms: Der Kaloustian-Jarudi-Khoury 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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