ICD-11 definition : 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), characterized
by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull
deformity of varying severity and type II (TDII), characterized by micromelia with
straight femurs and a moderate to severe cloverleaf skull deformity.;
ICD-11 synonym : TD - [thanatophoric dwarfism]; thanatophoric dwarfism; thanatophoric dwarf; Thanatophoric short stature; thanatophoric dwarfism or short stature; thanatophoric dwarfism syndrome;
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), characterized
by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull
deformity of varying severity and type II (TDII), characterized by micromelia with
straight femurs and a moderate to severe cloverleaf skull deformity.