spondylometaphyseal dysplasia Kozlowski type (DOID:0111554)
Alliance: disease page
Synonyms: dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type
Alt IDs: OMIM:184252, MESH:C535797, ORDO:93314, UMLS_CUI:C0265280
Definition: A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.