Terminology Service for NFDI4Health
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spondyloepiphyseal dysplasia with congenital joint dislocations

Go to external page http://purl.obolibrary.org/obo/MONDO_0007738

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. [ ]

Term info

Label

spondyloepiphyseal dysplasia with congenital joint dislocations

Synonyms
  • CHST3-related skeletal dysplasia
  • Humerospinal dysostosis
  • Kozlowski Celermajer tink syndrome
  • Omani type
  • SDCD, CHST3 type
  • chondrodysplasia with congenital joint dislocations, CHST3 type
  • chondrodysplasia with multiple dislocations
  • humero-spinal dysostosis with congenital heart disease
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
database cross reference
Subsets

gard_rare, ordo_disease

exactMatch

https://omim.org/entry/143095, http://purl.obolibrary.org/obo/Orphanet_263463, http://identifiers.org/mesh/C537283, http://purl.obolibrary.org/obo/DOID_0050813, http://identifiers.org/snomedct/702400006

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019700

has broad synonym

spondyloepiphyseal dysplasia

has related synonym

bifurcation of distal humerus with oligoectro-syndactyly, spondyloepiphyseal dysplasia with congenital JOINT dislocations, spondyloepiphyseal dysplasia, Omani type, SEDCJD, Gollop Coates syndrome

id

MONDO:0007738

narrowMatch

https://icd.codes/icd10cm/Q74.8

see also

https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome, https://github.com/monarch-initiative/mondo/issues/4948