What is JEUNE’s Syndrome?

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Jeune’s Syndrome, aka Jeune’s Asphyxiating Thoracic Dystrophy (ATD), is an autosomal recessive form of dwarfism. It is characterized by many bone abnormalities, the most pronounced being a long, narrow thorax with a reduced thoracic (rib) capacity causing the lungs to not have enough room to expand and grow. Renal (kidney) and hepatic (liver) dysfunction are present in some cases.

Until recently, children diagnosed with Jeune’s Syndrome were given nearly hopeless predictions about their future. Many would succumb to respiratory infection, or die from liver or kidney failure. Much has been done in recent years to give these children a decent chance in life. Transplants have been successful in treating liver and kidney problems and chest expansion procedures have been developed to give their lungs room to grow.