Osteogenesis imperfecta type 5

Orpha code: 216828OMIM code: 610967

Definicja

A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
OI type 5
OI typu 5
Kod ORPHA
216828
Kod OMIM
610967
Kod ICD10
Q78.0
Kod ICD11
LD24.K0

No additional description.

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