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Jeune syndrome

Disease definition

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

ORPHA:474

  • Synonym(s):
    • Asphyxiating thoracic dystrophy of the newborn
    • JATD
    • Jeune asphyxiating thoracic dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.2
  • OMIM: 208500  611263  613091  613819  614376  615630  615633  616300  617088
  • UMLS: C0265275
  • MeSH: C537571
  • GARD: 3049
  • MedDRA: 10057621

Detailed information

Professionals

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