Osteogenesis Imperfecta in Children
Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a rare genetic condition affecting approximately 1 in 20,000 individuals. Babies with OI are born with fragile bones that break easily.
What is Osteogenesis Imperfecta in Children?
Osteogenesis imperfecta (OI) is a rare genetic bone disorder that is present from birth. Children with OI often have soft bones that break easily, abnormal bone formation, and other related issues. Symptoms can vary widely, ranging from mild to severe.
OI comes in different types, each causing unique challenges. Some children may experience mild symptoms, such as slightly more fragile bones, while others may face more serious complications. With appropriate treatments, individuals with OI can improve their quality of life and achieve their full potential.
What are the causes of osteogenesis imperfecta in children?
Osteogenesis imperfecta (OI) is a genetic condition that can be inherited in various ways. It may be passed down from one or both parents, or it can result from a spontaneous mutation in the gene without any clear cause.
Most infants with OI have a defect in one of two specific genes responsible for producing collagen. Collagen is a key component of connective tissue, which provides structure and support to the body, including the bones. Due to this defect, collagen production is either insufficient or abnormal.
Signs & Symptoms of Osteogenesis Imperfecta (OI)
The following are the most common forms of osteogenesis imperfecta and typical symptoms associated with them:
Type I: This is the mildest and most common form of brittle bone disease. While the collagen is normal, there isn’t enough of it. Individuals with Type I experience bones that break more easily, though their bones generally maintain a normal shape. The first fracture typically occurs when the child begins walking, and fractures tend to become less frequent after puberty. The sclera (whites of the eyes) may appear blue, and they may experience hearing loss as adults.
Type II: This is the most severe form of the condition. The collagen is abnormally formed, and babies with Type II are typically born with numerous fractures, are very small, and experience severe breathing difficulties. As a result, most of these babies do not survive.
Type III: Collagen doesn’t develop normally in this kind, and newborns often have broken bones. Children tend to be shorter than other children their age, and as they age, their bones are more brittle. They may have brittle teeth, respiratory issues that can be fatal, hearing loss as adults, unusually formed bones (such as a curved spine, an outward-pointing rib cage, a triangular face, or legs that bow out), and other issues. They may have a blueish tint to their eye whites.
Type IV: In this type the collagen does not form normally. Children typically have improperly formed bones (similar to type III) and frequent bone breakage (which may occur less frequently during puberty). They may have hearing loss as adults and are shorter than other children their age.
How Is Osteogenesis Imperfecta (OI) Diagnosed?
If someone has a family member with osteogenesis imperfecta, doctors can perform tests to determine if a child has the condition. Before birth, a prenatal ultrasound can be done to check for broken or unusually shaped bones, or an amniocentesis may be ordered to test for mutations in the collagen gene.
If OI isn’t diagnosed before birth, doctors can conduct tests after the baby is born. They may also order tests even without a family history of OI if:
- A child has frequent or unexplained bone fractures, dental issues, blue sclera, or short stature
- A prenatal ultrasound reveals broken or abnormally shaped bones
To diagnose osteogenesis imperfecta in babies and children, doctors may recommend:
- X-rays to detect fractures or healed breaks
- Genetic tests to identify mutations in the collagen gene
- Biochemical tests, which could include a skin sample to examine the collagen
How is osteogenesis imperfecta treated in children?
There is no cure for osteogenesis imperfecta, but a healthcare team can assist children with managing the challenges related to the condition.
The care team for a child with brittle bone disease may include:
- A primary care provider (for routine health care)
- An orthopedic surgeon (for bone-related issues)
- A physical therapist (to assist with strength and movement)
- An occupational therapist (to support daily activities)
- A pulmonologist (to address any breathing problems)
Treatment options may include:
- Medications to strengthen bones and reduce the risk of fractures
- Preventing fractures by avoiding activities that could cause falls (like skiing) or putting excessive stress on the bones (such as jumping on a trampoline)
- Immediate treatment from an orthopedic surgeon if bones break
- Low-impact exercises (such as swimming) to help build muscle and bone strength
- Physical therapy (PT) to improve muscle strength, overall fitness, and breathing, as well as to teach children how to use mobility aids, if needed
- Occupational therapy (OT) to help children learn to use assistive devices, if necessary, and to support motor skill development in younger children
- Surgery to repair broken or misshapen bones, or to insert a metal rod into the thighbone or arm to prevent fractures
- Surgery to address hearing issues
- Treatment for dental problems
Conclusion
Knowing that your child has osteogenesis imperfecta, a condition that will impact them throughout their life, can feel overwhelming. The future may seem very different from what you had anticipated. However, starting occupational and physical therapy early can support both you and your child in adjusting to these changes. It’s also helpful to have open conversations with your child’s healthcare team and loved ones throughout the process. They can assist in creating a plan to manage symptoms and prepare for what lies ahead.
References
https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta
https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta
https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta
https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/
FAQs for Osteogenesis Imperfecta (Brittle Bone Disease) in Children: Symptoms, Causes & Treatment Options
Osteogenesis Imperfecta, or brittle bone disease, is a rare genetic disorder that causes fragile bones, abnormal bone formation, and other related symptoms.
OI is caused by a genetic mutation affecting collagen production, either inherited from parents or due to a spontaneous mutation.
The four common types of OI are:
Type I: Mild, with normal collagen but insufficient amounts.
Type II: Severe, often fatal at birth due to abnormally formed collagen.
Type III: Severe, with brittle bones, deformities, and shorter stature.
Type IV: Moderate, with frequent fractures and bone deformities.
Symptoms may include frequent fractures, short stature, blue sclera (whites of eyes appearing blue), dental issues, hearing loss, and bone deformities.
Diagnosis involves:
Prenatal ultrasound or genetic testing for high-risk pregnancies.
Postnatal X-rays, genetic testing, or biochemical tests in suspected cases.
There is no cure for OI. However, treatments can help manage symptoms, improve mobility, and enhance quality of life.
Treatment may include:
Medications to strengthen bones.
Physical and occupational therapy.
Surgery for fractures or bone deformities.
Assistive devices like braces or wheelchairs.
With proper medical care, low-impact exercises, and support from healthcare professionals, children with OI can improve their mobility and participate in daily activities safely.
The care team often includes pediatricians, orthopedic surgeons, physical and occupational therapists, pulmonologists, and dentists.
Parents should work closely with healthcare professionals, start early interventions like therapy, and educate themselves on managing symptoms and potential complications.
Author: Dr. Sujith Omkaram
Consultant Pediatric Orthopedician