Congenital pseudoarthrosis of the tibia

Orpha code: 295018OMIM code:

Definition

A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.

Disease data
Classification

Clinical subtype

Synonyms
Congenital pseudarthrosis of the tibia
Congenital pseudarthrosis of the tibia
ORPHA code
295018
OMIM code
-
ICD10 code
Q74.2
ICD11 code
-

No additional description.

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