This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Jeune syndrome is a rare condition that primarily affects the bones. Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes. People who survive the breathing challenges of infancy, may later develop severe kidney or heart problems. In many cases the cause of Jeune syndrome is unknown; however, changes (mutations) in several different genes (IFT80, DYNC2H1, WDR19, IFT140 and TTC21B) have been identified in some families with the condition. Jeune syndrome is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
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