Jeune syndrome

Jeune syndrome, also known as asphyxiating thoracic dystrophy (ATD) or Jeune asphyxiating thoracic dystrophy, is a rare inherited skeletal disorder classified among the ciliopathies. It is characterized by a narrow, bell-shaped thorax with short ribs that severely restrict lung growth and breathing, which can be life-threatening in the neonatal and infantile periods. The condition was first described by Mathis Jeune in 1955 and belongs to the group of short-rib thoracic dysplasias. The hallmark feature is the constricted thoracic cage, which leads to respiratory insufficiency of variable severity. Many affected infants experience severe respiratory distress at birth, and respiratory failure is the leading cause of mortality in the neonatal period. Additional skeletal features include short limbs (particularly shortened long bones), a characteristic 'trident' appearance of the acetabular roof on pelvic X-ray (trident acetabulum), polydactyly (extra fingers or toes) in some cases, and short stature. Beyond the skeletal system, Jeune syndrome can affect multiple organs. Renal involvement, including progressive nephronophthisis-like kidney disease and cystic renal changes, is common and may lead to chronic kidney failure in childhood or later life. Hepatic complications such as biliary dysgenesis, hepatic fibrosis, and cholestasis can also occur. Retinal dystrophy (progressive vision loss) and pancreatic abnormalities have been reported in some patients. Jeune syndrome is caused by mutations in genes involved in intraflagellar transport and cilia function, including IFT80, DYNC2H1, WDR19, IFT140, IFT172, TTC21B, WDR34, WDR60, TCTEX1D2, and others. The clinical severity is highly variable, even within families. Treatment is primarily supportive. For severe thoracic constriction, surgical thoracic expansion procedures (such as lateral thoracic expansion or vertical expandable prosthetic titanium rib implantation) may be performed to improve respiratory function. Respiratory support, including mechanical ventilation, may be necessary in the neonatal period. Renal and hepatic complications are managed as they arise, and organ transplantation may be considered in cases of end-stage organ failure. With improved surgical techniques and supportive care, survival into adulthood is increasingly possible for patients who survive the critical neonatal respiratory period.

Common questions about Jeune syndrome