spondyloepimetaphyseal dysplasia, Li-Shao-Li type

Term ID

DOID:0051046

Synonyms

Definition

A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. https://pubmed.ncbi.nlm.nih.gov/39414788/

References

• MIM:621099

Ontology

Human Disease   ( DOID:0051046 )