spondyloepimetaphyseal dysplasia, Strudwick type

Term ID

DOID:0080028

Synonyms

Definition

A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (2)

References

• GARD:134
• OMIM:184250
• ORDO:93346

Ontology

Human Disease   ( DOID:0080028 )