Jeune Syndrome

“Asphyxiating thoracic dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects development of the bone structure of the chest (thorax) resulting in a very narrow and bell-shaped chest. Other major characteristics include kidney problems (due to renal cyst development), shortened bones of the arms and legs, extra fingers and toes, and a shortened stature.

ATD is inherited as an autosomal recessive genetic disorder. It is caused by changes (mutations) in at least 24 different genes that encode for ciliary transport protein: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC 1/2 and KIAA0586/0753.


ATD is classified as a ciliopathy with major skeletal involvement or ciliary chondrodysplasia. Ciliopathies are conditions caused by mutations in genes involved in making proteins in the finger-like projections on the surface of cells (cilia). Abnormal cilia can lead to problems in the development of cartilage and bone.” Read More


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