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:
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- 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.
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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
- mental health counseling
- patient and family education
- spiritual care
- support groups