thanatophoric dysplasia
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.
MONDO:0018232
obsolete primary bone dysplasia with micromelia (obsolete MONDO:0018232)
excluded_subClassOf
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0019685
FGFR3-related chondrodysplasia
is_a
FGFR3-related thanatophoric dysplasia
exact
TD
exact
dwarfism thanatophoric
related
thanatophoric dwarfism
exact