Osteogenesis imperfecta type 4
Engelsk navn: Osteogenesis imperfecta type 4
Engelske synonym: OI type 4
A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.
Informasjon
TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 216820
Klassifiseringsnivå: Subtype of disorderICD-10: Q78.0