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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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