Osteogenesis Imperfecta
(Brittle Bone Disease)
Osteogenesis imperfecta (OI) is a rare disease in which the skeletal system and all its bones are extremely fragile and can break and fracture easily, often from very little trauma or force. It is also known as Brittle Bone Disease. The severeness of OI can vary from person to person. A person with OI can have several hundred fractures and breaks throughout their lifetime (“Osteogenesis Imperfecta”).
History
There is evidence that OI has affected people since ancient times. It has been recognized in an Egyptian mummy of an infant from about 1000 BC. The mummy is currently in the British Museum in London, England. A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI (Wagner). He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600’s. The term “osteogenesis imperfecta” was used in medical literature beginning in the 1840’s (About OI – OI Foundation).
Cause of OI/Genetics
OI is passed on genetically through a mutation or change in genes. People who have OI have a genetic mutation that carries the wrong set of instructions for making collagen, the substance that makes our bones strong.
People with OI have a mutation in one of the two copies of the genes (COL1A1 or COL1A3) that carry instructions for making type 1 collagen- the protein “scaffolding of bone and other connective tissues. The mutations cause a reduction in the amount of type 1 collagen made. Other people however may have a recessive inheritance pattern carried through families.
Dominant/ Recessive OI
In dominant OI, only one copy of the OI gene mutation is necessary for the child to have OI. If someone has dominant OI then they have a 50% chance of passing on to their offspring (Genetics).
In order to receive recessive OI, the gene mutation must come from both parents. Both parents d not need to have the disease however but both need to carry the mutation in their genes (Genetics).
This image shows the mutation of OI and how the mutation is recessive in this family.
Types of OI
Type 1:
The most common type and much milder compared to other types.
Bones are more likely to break from mild to moderate force and trauma and. Most bones break before the person hits puberty
Type 2:
Most severe type. Causes death at birth or shortly after because of an inability to breathe.
Most bones are broken during birth
Lungs are generally undeveloped
Type 3:
Most severe type is babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures.
Type 4:
Symptoms are between mild and severe. The bones of the arms and legs may not be straight. He or she may not grow normally.
Type 5:
Similar to type 4. Symptoms may be medium to severe. It is common to have enlarged thickened areas (hypertrophic calluses) in the areas where large bones are fractured
Type 6:
Very rare. Symptoms are medium. Similar to type IV.
Type 7:
Similar to type 4 or type 2. It is common to have shorter than normal height. Also common to have shorter than normal upper arms and thighbones.
Type 8:
Similar to types II and III. Very soft bones and severe growth problems.
Symptoms
Easily broken bones
Bone deformities (bowing in the legs)
Sclera (discoloration of the eyes)
Curved spined
Barrel shaped chest
Weak muscles
Hearing and breathing problems
Most patients are small in stature
Treatment
Physical therapy
Fracture care
Bracing
Surgical Procedures
Medication
Biblography
About OI – OI Foundation. oif.org/informationcenter/about-oi.
Blocked. orthoinfo.aaos.org/en/diseases--conditions/osteogenesis-imperfecta.
Genetics. medicine.tamu.edu/class-files/webpath16/genhtml/genet051.htm.
OIFE - Osteogenesis Imperfecta Federation Europe. “What Is OI.” OIFE - Osteogenesis Imperfecta Federation Europe, 8 Dec. 2021, oife.org/what-is-oi.
“Osteogenesis Imperfecta.” National Institute of Arthritis and Musculoskeletal and Skin Diseases, 4 Nov. 2022, www.niams.nih.gov/health-topics/osteogenesis-imperfecta.
“---.” Johns Hopkins Medicine, 19 July 2022, www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta.
Osteogenesis Imperfecta: MedlinePlus Genetics. medlineplus.gov/genetics/condition/osteogenesis-imperfecta.
Wagner, Stefanie. “How Does OI Impact Our Lives?” OIFE - Osteogenesis Imperfecta Federation Europe, 30 Oct. 2021, oife.org/2021/10/30/how-does-oi-impact-our-lives.










