Thanatophoric dysplasia (Q46595): Difference between revisions
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Revision as of 15:16, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.02 |
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| English | Thanatophoric dysplasia |
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. |
Statements
CID11:LD24.02
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