spondylometaphyseal dysplasia Kozlowski type

Term ID

DOID:0111554

Synonyms

• dysmorphism arthrogryposis skeletal maturation advanced
• Jequier Kozlowski skeletal dysplasia
• Jequier-Kozlowski syndrome
• skeletal dysplasia Jequier-Kozlowski type
• SMD Kozlowski type

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. https://www.ncbi.nlm.nih.gov/pubmed/19232556

References

• GARD:3047
• MESH:C535797
• OMIM:184252
• ORDO:93314
• SNOMEDCT_US_2023_03_01:254077000
• UMLS_CUI:C0265280

Ontology

Human Disease   ( DOID:0111554 )