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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

Classification level: Disorder
  • 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
  • ICD-11: LD24.3
  • OMIM: 143095
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)

Detailed information

General public

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.