Description

Scientific Background

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.

References

Emiralioglu et al. 2018, Clin Respir J 12:1017 / Schmidts 2014, J Pediatr Genet 3:46 / Barker et al. 2014, Organogenesis 10:96 / Romani et al. 2013, Lancet Neurol 12:894 / Ronquillo et al. 2012, Vision Res 75:88 / Brugmann et al. 2010, Am J Med Genet A 152A:2995