Although there’s no cure just yet for osteogenesis imperfecta, our world-renowned orthopedics experts at Nemours are here to help. We’re dedicated to helping children with brittle bone disease develop increased bone mass and muscle strength, prevent or control osteogenesis imperfecta symptoms and become as independently mobile as possible.
Children born with the genetic disorder osteogenesis imperfecta (also known as brittle bone disease) have bones that break easily — often from little or no apparent cause. These fractures are due to a collagen defect that causes the bones to be excessively fragile (collagen is a protein that makes up the framework of the body — the bones, skin, cartilage, etc.).
At Nemours, we believe in a strong doctor-patient relationship and understand that each child with osteogenesis imperfecta has unique needs. That means we'll work together to determine your child's specific needs when it comes to:
- seating: seating devices to encourage healthy posture and prevent bowing of the long bones
- adaptive equipment: to help your child get around and function day-to-day
- orthopedic intervention
For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.
- photo ID
- medical and pharmacy insurance cards
- preferred pharmacy name and phone number
- names and dosage of all medications, including over-the-counter medication, your child is currently taking
- guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
- medical records or radiographs
Bring these forms for your first appointment:
New Patient Forms
Returning Patient Forms
- Patient Presents Without Legal Guardian (PDF)
English | Spanish
Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families
Nationally and internationally recognized pediatric orthopedic surgeons, along with endocrinologists and geneticists, at Nemours Children’s Hospital in Orlando provide comprehensive care for children with osteogenesis imperfecta (OI) — also called brittle bone disease — a lifelong condition that may cause fragile bones, loose joints and problems with hearing, breathing, bruising and brittle teeth.
At Nemours Children’s Hospital, we treat all types of osteogenesis imperfecta, and our goal is clear: To help every child achieve the highest level of mobility, function and health possible.
Expert Care for Children With Osteogenesis Imperfecta
Families from across the country and around the world come to Nemours Children’s Hospital because we have the pediatric expertise and facilities necessary to offer innovative, minimally invasive techniques and advanced treatment for even the most severe forms of osteogenesis imperfecta in children.
Here you’ll find doctors, surgeons, counselors, nurses and staff across medical specialties who understand the emotional and social complexities that come with this condition. They work as a team to provide maximum ability and freedom as your child grows and develops.
Together, our experts personalize treatments for your child’s specific osteogenesis imperfecta symptoms. By creating a multidisciplinary team, we can also manage, anticipate and prevent future complications of this complex disease. Our physicians also participate in clinical research and follow the most advanced treatment protocols available.
In addition to an orthopedic surgeon, your child may also see specialists across medical departments. Depending on your child’s condition, the osteogenesis imperfecta care team may include pediatric:
- endocrinologists (specialists in hormone and growth disorders)
- geneticists (provide genetic testing and counseling)
- registered nurses (who specialize in orthopedic conditions)
- rehabilitation specialists (occupational and physical therapists)
- radiologists (provide diagnosis through medical imaging)
- interventional radiologists (perform image-guided minimally invasive procedures)
- neonatologists (newborn intensive care specialists)
- pain management specialists (help manage pain from surgery, disease or injury)
- pathologists (diagnose diseases by examining body tissues, fluids and organs)
- otolaryngologists (ear, nose and throat, or ENT, specialists)
- pulmonologists (lung and respiratory specialists)
- adaptive technology experts (fit wheelchairs and other assistive equipment)
- orthotists (customize, fabricate and fit braces and other supports)
- behavioral health experts (psychologists and psychiatrists)
- social workers (help you cope and find resources for your child)
Evaluating Osteogenesis Imperfecta Symptoms in Infants and Children
Your child’s evaluation at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in osteogenesis imperfecta. We can often make a diagnosis in our initial evaluation, but, depending on your child’s symptoms and condition, we may recommend additional diagnostic testing and further evaluation with a geneticist.
There are different types of osteogenesis imperfecta that range from mild (where symptoms can go unnoticed for years) to severe (where multiple complications can occur). Depending on the condition, symptoms and complications of osteogenesis imperfecta in children can include:
- short limbs
- frequent fractures
- curved or bowed bones
- spinal deformity or curvature (scoliosis)
- flexible joints (ligament laxity)
- blue sclerae (change in color of the”white” part of eyes)
- muscle weakness
- fragile skin (easily bruised)
- short stature
- brittle teeth
- hearing problems
- respiratory problems
Because of the complexity involved in making a firm diagnosis in some types of osteogenesis imperfecta, a great deal of information is collected at the initial visit, so it may take an hour or two to complete. During your visit, we’ll:
- obtain your child’s medical history and a family medical history
- review your child’s medical records and previously obtained X-rays
- perform a physical examination, including detailed measurements of your child’s joint motions (how much each joint can move) and the lengths of arm and leg bones
At Nemours Children’s Hospital we provide advanced testing to help us diagnose osteogenesis imperfecta and develop an effective treatment plan and ongoing care based on your child’s specific needs. Tests may include:
- imaging (X-ray, bone density scans)
- biochemical tests (determine levels of critical proteins in a sample of blood, urine or other fluid or tissue)
- biopsies (samples of bone and/or skin)
- molecular tests (determine a child’s genetic makeup and confirm the clinical diagnosis)
Treating Osteogenesis Imperfecta in Children
Severe forms of osteogenesis imperfecta are often associated with complex medical and surgical needs. Some children with osteogenesis imperfecta are shorter than other children their age and may need special seating devices to encourage healthy posture. We’ll work with your family to understand your child’s unique needs and the available treatment options.
We offer a variety of highly personalized, innovative treatments to improve mobility and relieve (and prevent) related complications. Depending on your child’s condition we may recommend:
- orthopedic surgery (minimally invasive techniques for limb reconstruction and strengthening, including intramedullary rodding [inserting rods to improve bone strength])
- medication therapy (such as pamidronate, a bisphosphonate that’s given intravenously, or IV, to help reduce fractures and improve bone density)
- orthotics (customized bracing fabricated onsite)
- assistive and adaptive technologies (wheelchairs, positioning and other assistive living devices)
- physical medicine and rehabilitation therapies (occupational and physical therapy to improve mobility and strength)
- pain management (relieve associated pain after surgery or during treatment)
- psychological counseling (helps maintain positive emotional and mental health)
To help make the experience as comfortable as possible, we also provide emotional and psychosocial support and many other services for your child and family, including:
- social work
- Child Life services
- KidsTRACK care coordination
- mental health counseling
- patient and family education
- spiritual care
- support groups
Our specialty inpatient and outpatient care services are offered on the same floor of our hospital, a design (recommended by our Family Advisory Council) that fosters maximum collaboration among your child’s specialists, and, just as important, is convenient for your family.
What’s more, some of the very same pediatric specialists your child sees at Nemours Children’s Hospital also provide convenient care at our specialty locations in downtown Orlando, Lake Mary and Melborne.
No matter where your child receives care at Nemours, your medical team (including your primary care provider) can keep track of your child’s progress and access your child’s medical history, test results and visit notes anytime through our award-winning electronic health record system.
You can also view parts of your child's health records, communicate with your Nemours care team, make appointments, request prescription refills and more through our MyNemours online patient portal.
What to Expect When Your Child Needs Surgery
If your child needs surgery, you can trust the highly trained pediatric surgical team at Nemours Children’s Hospital. Our pediatric surgical specialists (surgeons, anesthesiologists, and nurses) understand what kids (and families) need, psychologically, and physically.
Because we truly believe in family-centered care, we invite you (one parent or guardian) to the operating room to be with your child until just after sedation. We also provide our families with a peaceful place to wait without leaving the surgical floor, in our beautiful rooftop garden.
A Hospital Designed by Families, for Families
At Nemours Children’s Hospital, family-centered care is at the heart of everything we do. In fact, families helped shape the unique amenities and convenient services that make our hospital like no other in the region.
You’ll feel right at home in one of our private patient rooms designed with input from families who know what it’s like to have a child in the hospital.
Our large, comfortable, single-patient rooms have sleeping accommodations for two parents, a private bathroom, wireless Internet access, connections for DVD players and game systems, and two flat-screen TVs.
Other in-room features include:
- full floor-to-ceiling windows for natural light
- refrigerator for family meals and snacks
- wardrobe storage for personal items and a hotel-style safe
- GetWellNetwork interactive television (uniquely based on your child’s age, medical condition and more) and allows your child to watch TV, surf the Web, check e-mail, play music and games, and learn about your Nemours health care team.
Our “hospital within a garden” setting features many places for you and your family to go for fresh air and relaxation, including a one-acre interactive sensory discovery garden or one of our rooftop gardens on the second and fourth floors.
We have many more comforts and amenities such as:
- complimentary valet and parking
- kid-friendly commons areas for siblings
- café and coffee shop
- nondenominational chapel
- concierge services
If your child needs medical imaging, we offer some of the area’s most advanced pediatric radiology services here on campus at Nemours
Our unique services include:
- interventional radiology: Our team of experts uses image guidance to diagnose and treat diseases and tumors throughout the body. Certain conditions that previously required open surgery can now be treated by Nemours pediatric interventional radiologists. We are very fortunate to have the only dual-trained pediatric diagnostic and interventional radiologist in the state.
- neuroradiological or cardiovascular imaging, and fetal MRI (magnetic resonance imaging): Our subspecialty-trained pediatric radiologists see children with complex conditions who require this highly specialized imaging.
- Central Florida’s only 256-slice Brilliance iCT Scanner: We are one of only a handful of children’s hospitals in the country to have this latest generation CAT (or CT) scanner that scans faster than most machines and produces excellent images in a much shorter time with much less radiation exposure for the child.
Our team of board-certified pediatric radiologists and pediatric radiologic technologists are experts in the safe medical imaging of children of every age, even newborns.
We have also pledged our commitment to the “Image Gently” campaign of the Alliance for Radiation Safety in Pediatric Imaging, which is increasing awareness of the opportunities to promote radiation protection in the imaging of children.
At Nemours, we want to hear your concerns and share with you everything we can about your child's condition and treatment. If English is not your first language, we'll make sure you understand what to expect — in your language.
If your child has a complex or chronic condition we encourage you to take advantage of KidsTRACK, a unique service of Nemours Children’s Hospital. Located on the first floor of our hospital, KidsTRACK is designed to help families by providing expert assistance and information on all aspects of your child’s care, even before you leave our hospital or clinic.
A KidsTRACK care coordinator is available during every step of diagnosis, treatment and healing — helping your family make a smooth transition from Nemours Children's Hospital to home. Your coordinator works alongside the nursing/case managers in our subspecialty areas and acts as a single point of contact connecting you to medical and community resources.
Simply ask your physician for a referral to KidsTRACK
or call (407) 650-7715.