Osteogenesis Imperfecta in Children

What is Osteogenesis Imperfecta in children?

Osteogenesis imperfecta (OI) is a genetic disorder in which bone easily fractured with or even without any trauma. So it is also known as a brittle bone disease. In this disease bone get easily fracture from early childhood.

Causes of Osteogenesis Imperfecta?

Genetic insult is the cause of this disease. In which one of the genes is the problematic that makes Type 1 Collagen, a protein in body connective tissues. So that their body will not have sufficient / not of good quality collagen, this will leads to fragile bones that break very easily.

Symptoms of Osteogenesis Imperfecta in children?

Each children will have different set of symptom related with variety of osteogenesis imperfecta. In osteogensis imperfecta along with fragile bone, blue sclera in eye, crooked bones, scoliosis, hearing loss, short height & teeth problem can be found etc.

Types of Osteogenesis Imperfecta (OI)

osteogensis imperfecta have many variety of presentation. Four main variety are common

Type 1:

This is the most common form of OI & mildest one. In this variety, bone deformity will be very little, but bones can get easily fractured. Sclera can be blue/ purple and teeth abnormality

Type 2:

Most severe form of OI. Very little chance of survival. If survive then multiple fracture. Results from new gene mutation.

Type 3:

Baby with this type often born with fracture, bones fracture very easily. Child will have multiple deformity & can have hearing loss. Poor muscle development in leg and arms.  Very small stature.

Type 4:

This is moderately severe. This variety is between type 1 & 3. near normal coloured sclera in eye. Mild to moderate bony deformity.

How is Osteogenesis Imperfecta diagnosed in children?

Detail history of fracture of bone since infancy without much trauma & dis-colouration of sclera in eye can indicate toward the possibility of osteogenesis imperfecta. X-ray is the most important investigation as for primary diagnosis is concerned. Genetic evaluation may be necessary to confirm the type of OI.

Treatment for Osteogenesis Imperfecta?

There is no cure of osteogenesis imperfecta. Treatment are aimed to prevention, treatment of fracture, & correction of deformity etc.


Medicine like bisphophonate are being used to improve bone quality, to decrease the incidence of fracture & also helps in bone pain. Most of time it is being used through intravenous rout at regular interval under the guidance of pediatric orthopedic surgeon.

Plaster cost:

plaster cost is required to hold the fracture till healing


light weight orthosis made of polypropylene is required to support the limb during activities so fracture can be prevented.


these children can’t be given prolong bed ridden because with rest bone will be more weaken so light weight bearing exercises are advises to maintain bone quality.


surgery is required to manage broken bone and to correct the deformity. Bone get usually unite at their normal speed but with deformity. So most of time deformed bone need correction by surgery and fixation by dual Rod system. Pediatric orthopedic surgeon manage this deformity and recurrent fracture.

Long term outlook for Osteogenesis Imperfecta in children?

With advancement of age, incidence of fracture gets reduced. Type 2 OI don’t survive so much but other variety child will be able to reach adult hood. They may need to wear braces and have intramedullary rod for long period. These adults should avoid taking medicine like steroid and should not use smoking and drinking. Avoiding brisk activities, with good care and follow up under pediatric orthopedic surgeon, their quality of life can be good.

Complications of osteogenesis imperfecta in a child?

Most common complication of osteogenesis imperfecta in children is the repeated fracture, deformity of bone, hearing loss etc.

Frequently Asked Questions

Can you walk with osteogenesis imperfecta?

Few people with Type 1 OI are very mildly affected. Their height is average or above-average. Thus, they can walk but we need to take caution and with strict guidance of pediatric orthopedic surgeon and with proper limb support like wearing brace.

Can brittle bone disease be cured?

There is no complete treatment for brittle bone disease. But the treatment can reduce symptoms, stop the breakage of bones, and maximize movement.

Does osteogenesis imperfecta get worse with age?

Yes, it may get worse as your child gets older but in few variety it may better.

Last Updated Recently

Dr. Jitendra Kumar Jain is a famous name in the field of childhood physical disability pediatric orthopedic problems in North India. He has been an MS Orthopedics, DNB Orthopedics, Pediatric orthopedic surgeon & also a cerebral palsy specialist for over 21 years.

See Full Bio 

Walk in Appointments Available Daily

You can make an appointment online for video tale-consultation by fixing up an appointment at this website or you can visit the clinic to make an appointment in person and show to doctor with the care of social distancing at the given time.

Contact us

Call Us

+ 91 9415014994
+ 91 8577873545
+ 91 9455001645

Our Location

Dr. Jitendra Kumar Jain
Trishla Orthopedic Clinic & Rehab center, 182C / 350A, Tagore Town, Prayagraj (Allahabad) U.P-211002, India

Translate to Other Languages