Thanatophoric dysplasia

rare

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.

Identifiers: MONDO:0017042 Orphanet:2655
Causal genes: FGFR3
Part of: FGFR3-related chondrodysplasia Osteochondrodysplasia
Also known as: dwarfism thanatophoric · FGFR3-related thanatophoric dysplasia · TD · thanatophoric dwarfism

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Thanatophoric dysplasia type 2	MONDO:0008547	1
Kozlowski Warren Fisher syndrome	MONDO:0023573
Thanatophoric dysplasia type 1	MONDO:0008546
Thanatophoric dysplasia, Glasgow variant	MONDO:0010114

Rare disease

Projects

Including projects on subtypes.

No projects yet.