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Torrance type platyspondylic dysplasia
Summary
- Synonym
-
- PLSD-T
- PLSDT
- lethal short-limbed platyspondylic dwarfism, Torrance type
- platyspondylic dysplasia, Torrance-Luton type
- platyspondylic lethal skeletal dysplasia, Torrance type
- 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.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0111508
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
