osteogenesis imperfecta type X (type 10)

Pathology

• connective tissue disorder
• bone fragility
• low bone mass

Genetics

• associated with defects in SERPINH1 are the cause of osteogenesis imperfecta type 10

Clinical manifestations

• bowing of limbs due to multiple fractures
• short limb dwarfism
• blue sclerae

More general terms

• osteogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/613848