Orphanet: Severe oculo renal cerebellar syndrome

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Severe oculo-renal-cerebellar syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.

ORPHA:2715

Classification level: Disorder

Synonym(s):
- Hunter-Jurenka-Thompson syndrome
- ORC syndrome
- Oculorenocerebellar syndrome
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Infancy
ICD-10: Q04.8
OMIM: 257970
UMLS: C1850331
MeSH: -
GARD: 4050
MedDRA: -

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Severe oculo-renal-cerebellar syndrome

ORPHA:2715

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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