ASPHYXIATING THORACIC DYSTROPHY (JEUNE SYNDROME)

Hereditary disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly).

At least 11 genes have been found to cause this syndrome. Mutations in these genes disrupt the normal assembly or function of cilia, leading to missing or abnormal cilia in many types of cells.