LD24.02
category
Thanatophoric dysplasia
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), 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.
Also indexed as
TD - [thanatophoric dwarfism]Thanatophoric dwarfismThanatophoric dwarfism type 1Thanatophoric dwarfism type 2Thanatophoric dysplasiaThanatophoric dysplasia type 1Thanatophoric dysplasia type 2Thanatophoric dysplasia type IThanatophoric dysplasia type IIThanatophoric short statureThanatophoric short stature type 1Thanatophoric short stature type 2thanatophoric dwarfthanatophoric dwarfism or short staturethanatophoric dwarfism syndrome