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CHST3-related skeletal dysplasia

ORPHA263463
Synonym(s) Autosomal recessive Larsen syndrome
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 Infancy
Neonatal
ICD-10
  • Q74.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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 scoiliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect,vision and hearing are normal.


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Detailed information

Article for general public
Clinical genetics review
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