Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. Disease data Classification Disease Synonyms Chondrodysplasia with congenital joint dislocations, CHST3 type Chondrodysplazja z wrodzonym zwichnięciem stawów, typu CHST3 Dysplazja kręgosłupowo-nasadowa z wrodzonym zwichnięciem stawów, typu CHST3 SDCD, CHST3 type Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type ORPHA code 263463 OMIM code 143095 ICD10 code Q74.8 ICD11 code LD24.3 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl