Metaphyseal dysplasia, Braun-Tinschert type

Definition

Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.

Disease data

Classification

Malformation syndrome

ORPHA code

85188

OMIM code

605946

ICD10 code

Q78.5

ICD11 code

*Soruce