Jeune Asphyxiating Thoracic Dysplasia (JATD)
In a nutshell
Jeune Syndrome (Jeune Asphyxiating Thoracic Dysplasia, also called short-rib thoracic dysplasia) is a very rare recessively inherited condition, with an estimated incidence of 1 per 200,000. Its primary feature is a narrow chest caused by short ribs, which leads to underdevelopment of the lungs and respiratory distress at birth and in infancy, often improving later in life as the ribs grow. Kidney, retinal, liver and limb features may also occur. There is no curative therapy to date; treatment is supportive.
Jeune Syndrome, also called short-rib thoracic dysplasia, is a very rare (estimated incidence of 1 per 200,000) group of recessively inherited ciliary .
Primary features
- Narrow/ small thorax due to short ribs - this causes underdevelopment of the lungs in utero.
- Respiratory distress at birth and in infancy which improves later in life due to postnatal rib growth.
- Shortening of the arms, legs, fingers and toes (brachydactyly) may be present.
- Cone shaped epiphyses (ends of the bones) often become visible in x-ray images of the hands after the first year of life.
- Sometimes, extra fingers and toes (polydactyly) are present.
- Rarely, retinal disease such as retinitis pigmentosa or rod-cone dystrophy. These conditions cause impaired vision and may progress to blindness.
- Renal disease due to polycystic or nephronophthisis-like kidney symptoms which may progress into renal insufficiency.
- Mild liver dysfunction is often reported which only rarely seems to progress into more severe liver disease.
Impact of JATD
- Lethality occurs in 20-60% of all cases, mainly during the first 1-2 years of life. This is most often due to respiratory problems resulting from a narrow ribcage. Some patients seem to "grow out" of the rib phenotype later in life. Nevertheless, the narrow ribcage can cause mechanical lung compression during pregnancy in female patients. Patients also might more frequently develop scoliosis and hip dysplasia.
- Mutations in different genes are linked to variability of clinical features, for example IFT140 mutations are often associated with early renal failure
- There is no curative therapy available for JATD to date, therapeutic options are limited to supportive measures such as mechanical ventilation or thoracic expansion surgery in severe cases and appropriate treatment of respiratory infections. Renal disease should be diagnosed early and patients should receive appropriate supportive treatment such as dialysis and renal transplantation. Retinal disease should be excluded and/or monitored via regular ERG (electroretinogram) examinations.
- Extra fingers and toes can be removed surgically if they cause functional problems.
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Last reviewed: August 2026