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Osteogenesis imperfecta type 1

rare

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

Identifiers
MONDO:0008146 OMIM:166200Orphanet:216796
Causal genes
COL1A1
Part of
Osteogenesis imperfecta and a reduction of bone mineral density.
Also known as
Adair-Dighton syndrome · classic non-deforming OI with blue sclerae · COL1A1-related osteogenesis imperfecta · mild osteogenesis imperfecta · non-deforming osteogenesis imperfecta

Subtypes

All diseases Rare only
Disease Subtypes
Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

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