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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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Sub-types

Kozlowski Warren Fisher syndrome (0) Micromelic bone dysplasia with cloverleaf skull (0) Thanatophoric dysplasia, Glasgow variant (0) Thanatophoric dysplasia type 1 (0) Thanatophoric dysplasia type 2 (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Human disease (14) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)
Trials to join now! 17 Not yet recruiting 6 Not yet finished but already full! 4 Completed 7 Terminated 1
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