Torrance type platyspondylic dysplasia

Term ID

DOID:0111508

Synonyms

• lethal short-limbed platyspondylic dwarfism, Torrance type
• platyspondylic dysplasia, Torrance-Luton type
• platyspondylic lethal skeletal dysplasia, Torrance type
• PLSD-T
• PLSDT
• thanatophoric dysplasia, Torrance variant

Definition

An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (2)

References

• GARD:4382
• MESH:C563627
• OMIM:151210
• ORDO:85166
• UMLS_CUI:C1835437

Ontology

Human Disease   ( DOID:0111508 )