Meckel's syndrome

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An autosomal recessive developmental disorder characterized by a combination of renal cysts and developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Meckel's syndrome type 1 is caused by mutation in a gene encoding a conserved component of the flagellar apparatus basal body proteome (MKS1) that interacts with meckelin. Type 2 maps to a region of chromosome 11 where the homeobox gene PHOX2A is also located. Type 3 is caused by mutation in meckelin, Type 4 is caused by mutation in the CEP290 gene, the product of which (nephrocystin-6) is localized in centrosomes and cilia and is also associated with Joubert's syndrome-5, Leber congenital amaurosis, and Senior–Loken syndrome.

Subjects: Medicine and Health.

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