Thanatophoric dysplasia

MONDO:0017042

A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.

Also known as: FGFR3-related thanatophoric dysplasia, TD, thanatophoric dwarfism, dwarfism thanatophoric

35 clinical trials for this condition and its sub-types.

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