osteogenesis imperfecta type 1

info · Genetic

An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Signs and symptoms

Hip dysplasia
Blue sclerae
Finger joint hypermobility
Recurrent fractures
Increased susceptibility to fractures
Otosclerosis
Hearing impairment
Femoral bowing
Biconcave flattened vertebrae
Vertebra plana

Medications that may treat it

salmon calcitonin

Also known as: OI1; osteogenesis imperfecta type I