Osteogenesis imperfecta type 2

Definition

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

Also known as lethal osteogenesis imperfecta, OI type 2, OI2, osteogenesis imperfecta type 2, osteogenesis imperfecta type II, Vrolik type of osteogenesis imperfecta — per MONDO

Also identified as

• DOID 0110341 per MONDO
• MESH C536042 per MONDO
• NCIT C99001 per MONDO
• OMIM 166210 per MONDO
• Orphanet 216804 per MONDO
• SCTID 86470003 per MONDO
• UMLS C0268358 per MONDO

Affected Organs