Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications. If your child’s been diagnosed with multiple epiphyseal dysplasia (a type of skeletal dysplasia), we’re here to ease your concerns, answer your questions, and give your child the best possible chance for a healthy future.
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
Bring these forms for your first appointment:
New Patient Forms
Returning Patient Forms
- Patient Presents Without Legal Guardian (PDF)
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Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families
Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with multiple epiphyseal dysplasia (MED), a type of skeletal dysplasia that affects the cartilage (flexible connective tissue) at the growing ends of the long bones (called epiphysis). Multiple epiphyseal dysplasia is a genetic condition that is divided into types based on the pattern of inheritance: The dominant Fairbank type (severe) and the recessive Ribbing type (mild). Both types share developmental features that may include short limbs and mild short stature (dwarfism). Depending on the type, multiple epiphyseal dysplasia can cause spinal curvature (scoliosis) and deformities in the hands, knees and feet; joint pain is common.
At Nemours, our goal is to help children with all forms of skeletal dysplasia achieve the highest level of mobility, function and health possible. Here, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified and share a strong commitment to your child’s long-term health and wellness. As a team, we work together to manage the physical, emotional and social complexities that come with this condition, and to provide maximum ability and freedom as your child grows and develops.
Expert Care for Children With Multiple Epiphyseal Dysplasia
Multiple epiphyseal dysplasia is a rare condition and only a handful of hospitals in the country treat children with MED. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including multiple epiphyseal dysplasia, from both a genetic and orthopedic perspective.
Both types of MED can be caused by a genetic change (or mutation) in one of several genes that play specific roles in bone and cartilage production. The dominant type involves changes in any one of the COMP, COL9A1, COL9A2, COL9A3 or MATN3 genes which may affect how cartilage is formed, the way cartilage converts to bone and the normal production of collagens that are responsible for strengthening cartilage and other connective tissues (tendons, ligaments, etc.).
The recessive type is caused by mutations in the SLC26A2 gene responsible for normal cartilage production and how it converts to bone. Sometimes, however, children with multiple epiphyseal dysplasia do not have mutations in any of these genes, and the cause is unknown.
In addition to short limbs, joint problems and mild short stature, multiple epiphyseal dysplasia symptoms can include cleft palate (a hole in the roof of the mouth), curved fingers or toes, clubfoot, flat fleet and ear swelling.
Children with multiple epiphyseal dysplasia may also have early-onset arthritis that can cause joint pain, decreased endurance or a limp or waddling walk (gait). Your Nemours team of specialists will look for and assist in managing these symptoms.
Evaluating Multiple Epiphyseal Dysplasia in Children
Multiple epiphyseal dysplasia is typically diagnosed in children 2 years of age and older, and milder forms may go unnoticed until early adulthood. Your child’s evaluation for multiple epiphyseal dysplasia at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in skeletal dysplasias. We can often make a diagnosis in our initial evaluation, but, depending on your child’s condition, we may recommend additional diagnostic testing and further evaluation with a geneticist.
Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including multiple epiphyseal dysplasia, 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 three-generation 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 multiple epiphyseal dysplasia and develop an effective treatment plan based on your child’s specific needs. Tests may include:
- imaging: X-ray, ultrasound, CT (computed tomography) and MRI (magnetic resonance imaging)
- biochemical tests: determine levels of critical proteins in a sample of blood, urine or other fluid or tissue
- molecular tests: determine a child’s genetic makeup and confirm the clinical diagnosis
Treating Multiple Epiphyseal Dysplasia
Skeletal dysplasias, including multiple epiphyseal dysplasia, are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals and well-equipped facilities to provide convenient, comprehensive multispecialty care for your child and family.
While there is no cure or simple treatment for multiple epiphyseal dysplasia, in some cases, surgical procedures may improve mobility and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.
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
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.