osteogenesis imperfecta type 4

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that is characterized by bone fragility and normal 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

Otosclerosis
Hearing impairment
Scoliosis
Biconcave flattened vertebrae
Femoral bowing present at birth, straightening with time
Short stature
Bowing of limbs due to multiple fractures
Blue sclerae
Kyphosis
Dentinogenesis imperfecta

Also known as: OI4; osteogenesis imperfecta type IV; osteogenesis imperfecta with normal sclera