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Spinocerebellar degeneration-corneal dystrophy syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Der Kaloustian-Jarudi-Khoury syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.1
  • OMIM: 271310
  • UMLS: C1849087
  • MeSH: C535472
  • GARD: 1525
  • MedDRA: -
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