Jeune syndrome/short rib thoracic dysplasia is a disease with autosomal recessive inheritance. Nephronophthisis in combination with short stature, a narrow thorax with short ribs, polydactyly and retinopathy is called short rib-polydactyly syndrome, Jeune syndrome or Ellis-van Creveld syndrome. This group of diseases shows great gene locus heterogeneity, and about 20 associated genes are currently known. Similar to nephronophthisis, Jeune syndrome/short rib thoracic dysplasia is counted among the ciliopathies.
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