Osteogenesis ImperfectaSymptoms, Doctors, Treatments, Advances & More
Learn About Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a condition causing extremely fragile bones.
Brittle bone disease; Congenital disease; OI
OI is present at birth. It is often caused by a variant in the gene that produces type I collagen, an important building block of bone. There are many variants that can affect this gene. The severity of OI depends on the specific gene variant.
If you have one copy of the gene, you will have the disease. Most cases of OI are inherited from a parent. However, some cases are the result of new genetic variants.
A person with OI has a 50% chance of passing on the gene and the disease to their children.
All people with OI have weak bones, and fractures are more likely. People with OI are most often below average height (short stature). However, the severity of the disease varies greatly.
The classic symptoms include:
- Blue tint to the whites of their eyes (blue sclera)
- Multiple bone fractures
- Early hearing loss (deafness)
Because type I collagen is also found in ligaments, people with OI often have loose joints (hypermobility) and flat feet. Some types of OI also lead to the development of poor teeth.
Symptoms of more severe forms of OI may include:
- Bowed legs and arms
- Kyphosis
- Scoliosis (S-curve spine)
There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications from OI.
Medicines that can increase the strength and density of bone are used in people with OI. They have been shown to reduce bone pain and fracture rate (especially in the bones of the spine). They are called bisphosphonates.
Low impact exercises, such as swimming, keep muscles strong and help maintain strong bones. People with OI can benefit from these exercises and should be encouraged to do them.
In severe cases, surgery to place metal rods into the long bones of the legs may be considered. This procedure can strengthen the bone and reduce the risk for fracture. Bracing can also be helpful for some people.
Surgery may be needed to correct any deformities. This treatment is important because deformities (such as bowed legs or a spinal problem) can interfere with a person's ability to move or walk.
Even with treatment, fractures will occur. Most fractures heal quickly. Time in a cast should be limited, because bone loss may occur when you do not use a part of your body for a period of time.
Many children with OI develop body image problems as they enter their teenage years. A social worker or psychologist can help them adapt to life with OI.
Nemours Children's Hospital, Delaware
I’m a kid at heart, and I usually express that in my work. When I was accepted into my pediatric fellowship, following a residency in orthopedics, I knew my professional life would always center on kids. I’m a doer and my favorite quote by Emerson is, “What you do speaks so loudly that I can't hear what you say.” Whether as a doctor, parent, or coach, I really enjoy working with kids. I’ve always found the human body fascinating and mystifying in all its complexity. The science of growth is absolutely amazing. I’m passionate about working with kids. I’ve taken a group of middle school recreational runners to two league championships. I also received a national coaching award at Stanford University. In my research, I’ve helped develop new surgical techniques for an extremely difficult condition called osteogenesis imperfecta. Dr. Kruse is rated as an Elite provider by MediFind in the treatment of Osteogenesis Imperfecta. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Macrodactyly of the Foot, Symphalangism Distal, Osteotomy, and Spinal Fusion. Dr. Kruse is board certified in American Board Of Orthopaedic Surgery.
Diabetes And Endocrinology Center At Specialty Services Pavilion
Lynn Mack is an Endocrinologist practicing medicine in Omaha, Nebraska. She has been practicing medicine for over 35 years. Dr. Mack is rated as a Distinguished provider by MediFind in the treatment of Osteogenesis Imperfecta. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Paget's Disease of Bone, Postmenopausal Osteoporosis, and Type 1 Diabetes (T1D).
Division Of Endocrinology
Christina Jacobsen is a Pediatric Endocrinologist practicing medicine in Boston, Massachusetts. Dr. Jacobsen is rated as an Elite provider by MediFind in the treatment of Osteogenesis Imperfecta. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Osteoporosis-Pseudoglioma Syndrome, Osteogenesis Imperfecta, Mandibuloacral Dysplasia, and Cranioectodermal Dysplasia.
How well a person does depends on the type of OI they have.
- Type I, or mild OI, is the most common form. People with this type can live a normal lifespan.
- Type II is a severe form that often leads to death in the first year of life.
- Type III is also called severe OI. People with this type have many fractures starting very early in life and can have severe bone deformities. Many people need to use a wheelchair and often have a somewhat shortened life expectancy.
- Type IV, or moderately severe OI, is similar to type I, although people with type IV often need braces or crutches to walk. Life expectancy is normal or near normal.
There are other types of OI, but they occur very rarely and most are considered subtypes of the moderately severe form (type IV).
Complications are largely based on the type of OI present. They are often directly related to the problems with weak bones and multiple fractures.
Complications may include:
- Hearing loss (common in type I and type III)
- Heart failure (type II)
- Respiratory problems and pneumonias due to chest wall deformities
- Spinal cord or brain stem problems
- Permanent deformity
Severe forms are most often diagnosed early in life, but mild cases may not be noted until later in life. See your health care provider if you or your child have symptoms of this condition.
Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition.
Summary: This study will determine the effect of treatment of AGA2115 in adults with Type I, III, or IV osteogenesis imperfecta versus placebo.
Summary: The primary objective of this trial is to evaluate the safety of romosozumab in participants with osteogenesis imperfecta (OI) that have completed Study 20200105, regardless of whether they received investigational product (romosozumab) until the last protocol-specified dose or ended investigational product early.
Published Date: July 01, 2025
Published By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Marini JC. Osteogenesis imperfecta. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 742.
McClincy MP, Olgun ZD, Dede O. Orthopedics. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 22.
Son-Hing JP, Hardesty CK. Congenital abnormalities of the upper and lower extremities and spine. In: Martin RJ, Fanaroff AA, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 12th ed. Philadelphia, PA: Elsevier; 2025:chap 103.