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GENATLAS PHENOTYPE
last update : 24-08-2009
Symbol SEDO
Location 10q22-q24
Name spondyloepiphyseal dysplasia, Omani type
Corresponding gene CHST3
Main clinical features
  • short stature (final adult height of 110 to 139 cm), shortening of the upper segment due to severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence
  • at radiography, intervetebral disk space narrowing, with irregular endplate, small epiphyses of the long bones, multiple accessory ossification centers in the carpus
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name carbohydrate (chondroitin 6) sulfotransferase 3
    Remark(s)