Metaphyseal dysplasia, Braun-Tinschert type

Orpha code: 85188OMIM code: 605946

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
85188
Kod OMIM
605946
Kod ICD10
Q78.5
Kod ICD11
-

No additional description.

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