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.

thoracic hypoplasia in JATD
Jeune asphyxiating thoracic dysplasia – summary
  • JATD
  • Jeune Syndrome
  • Short-rib thoracic dysplasia 2, 3, 4, 5, 8, 9, 10, 11
main symptoms
  • short ribs
  • thoracic dysplasia
  • pulmonary hypoplasia
  • skeletal malformations: small pelvis, early ossification of epiphyses of head of femur, cone shaped epiphyses, scoliosis
  • postaxial polydactyly
additional findings
  • progressive renal insufficiency in up to 20% of cases depending on underlying genetic mutation (IFT140, IFT172 renal failure in 100%)
  • retinitis pigmentosa
  • fibrosis of liver and pancreas
  • elevated liver enzymes
  • rarely abnormalities of CNS
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
1 SRTD2 611263 IFT80 611177
2 SRTD3 613091 DYNC2H1 603297
3 SRTD4 613819 TTC21B/ IFT139 612014
4 SRTD5 614376 WDR19/IFT144 608151 NPHP13 614377
SLSN8 616307
5 SRTD6 263520 NEK1 604588
6 SRTD7 614091 WDR35 613602
7 SRTD8 615503 WDR60 615462
8 SRTD9 266920 IFT140 614620 Retinitis pigmentosa 80 617781
9 SRTD10 615630 IFT172 607386 Retinitis pigmentosa 71 616394
10 SRTD11 615633 WDR34 613363
11 SRTD13 616300 CEP120 613446 JBTS31 617761
12 SRTD14 616546 KIAA0586 610178 JBTS23 616490



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