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

0 clinical trials for this condition and its sub-types, 0 tagged with Thanatophoric dysplasia itself.

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Where it sits in the disease tree

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Part of

↑ Osteochondrodysplasia (380) ↑ FGFR3-related chondrodysplasia (33)

Sub-types of Thanatophoric dysplasia

Kozlowski Warren Fisher syndrome 0 trials
Thanatophoric dysplasia type 1 0 trials
Thanatophoric dysplasia type 2 0 trials
1 sub-type
- Micromelic bone dysplasia with cloverleaf skull 0 trials
Thanatophoric dysplasia, Glasgow variant 0 trials

Including sub-types (0) Tagged with Thanatophoric dysplasia (0)

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