Abstract
Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.
MeSH terms
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Abnormalities, Multiple / genetics
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Bardet-Biedl Syndrome / genetics
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Bardet-Biedl Syndrome / pathology
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Cerebellar Diseases / genetics
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Cerebellum / abnormalities
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Child
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Cilia / genetics
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Cilia / physiology
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Ciliary Motility Disorders / genetics
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Ciliopathies
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Encephalocele / genetics
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Eye Abnormalities / genetics
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Genetic Predisposition to Disease
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Humans
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Kidney Diseases, Cystic / genetics
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Leber Congenital Amaurosis / genetics
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Oculocerebrorenal Syndrome / genetics*
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Optic Atrophies, Hereditary / genetics
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Polycystic Kidney Diseases / genetics
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Retina / abnormalities
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Retinitis Pigmentosa
Supplementary concepts
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Agenesis of Cerebellar Vermis
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Meckel syndrome type 1
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Senior Loken Syndrome