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CHST3-related skeletal dysplasia

Disease 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.

ORPHA:263463

  • Synonym(s):
    • Chondrodysplasia with congenital joint dislocations, CHST3 type
    • SDCD, CHST3 type
    • Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q74.8
  • OMIM: 143095
  • UMLS: C2931649
  • MeSH: -
  • GARD: -
  • MedDRA: -

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