Jeune asphyxiating thoracic dystrophy belongs to the group of short rib thoracic dysplasia (SRTD) and is characterized by short ribs a dysplastic thorax with significant pulmonary hypoplasia and other skeletal anomalies (scoliosis, short extremities). Additionally findings can be NPH, fibrotic changes of liver and pancreas, hyperbilirubinemia as well as a retinopathy. The phenotype varies depending on underlying mutations. Thus some cases are lethal whereas other patients present with mild symptoms. During the course of time recurrent pulmonary infections and progressive chronic renal failure are the main limiting symptoms of the disease.Jeune asphyxiating thoracic dysplasia – summary
|manifestation||neonatal. Often antenatal diagnosis is possible due to thoracic hypoplasia|
|frequency||1 : 200,000–1.000.000 live births|
|inheritance||autosomal – recessive|
|pathogenesis||Underlying mutations lead to defects of the intraflagellar transport of primary cilia.|
|progress and prognosis||The neonatal prognosis depends on the degree of pulmonary hypoplasia and respiratory distress. 20 – 60 % of cases die within the first weeks of life. In the course of disease renal failure is the limiting factor. If retinitis pigmentosa is present a progressive visual impairment leading to blindness can be expected. The cognitive development in patients is most often not affected.|
|treatment||No causal treatment available. A multidisciplinary care is necessary.|
Known genes for Jeune asphyxiating thoracic dyplasia to date
|Disease||OMIM Phenotype Nr||Gene||OMIM – Gene number||alternative Phenotype + OMIM Phenotype Nr|
|8||SRTD9||266920||IFT140||614620||Retinitis pigmentosa 80||617781|
|9||SRTD10||615630||IFT172||607386||Retinitis pigmentosa 71||616394|
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- Wolf M. Nephronophthisis and related syndromes. Curr Opin Pediatr. 2015 Apr; 27(2): 201–211.