LD24.02 Thanatophoric dysplasia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Thanatophoric Dysplasia is a severe skeletal disorder that is lethal in the neonatal period. Two clinically defined TD subtypes have been classified: type I (TDI), characterised by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull deformity of varying severity and type II (TDII), characterised by micromelia with straight femurs and a moderate to severe cloverleaf skull deformity.
synonyms
- Thanatophoric dysplasia
- Thanatophoric short stature
- Thanatophoric dwarfism
- thanatophoric dwarf
- thanatophoric dwarfism or short stature
- thanatophoric dwarfism syndrome
- TD - [thanatophoric dwarfism]
- Thanatophoric dysplasia type I
- Thanatophoric dysplasia type 1
- Thanatophoric dwarfism type 1
- Thanatophoric short stature type 1
- Thanatophoric dysplasia type II
- Thanatophoric dysplasia type 2
- Thanatophoric dwarfism type 2
- Thanatophoric short stature type 2
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