Osteogenesis imperfecta type 5

Orpha code: 216828OMIM code: 610967

Definition

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
Classification

Clinical subtype

Synonyms
OI type 5
OI typu 5
ORPHA code
216828
OMIM code
610967
ICD10 code
Q78.0
ICD11 code
LD24.K0

No additional description.

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