Spondyloepiphyseal Dysplasia

young boy with spondylo-epiphyseal dysplasia

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 spondyloepiphyseal 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.

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Nemours Children's Hospital in Orlando


13535 Nemours Parkway
Orlando, FL 32827
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For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.

 
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What to Bring
  • 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
New Patients

Bring these forms for your first appointment:

Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
 
Forms & Resources
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

Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with spondylo-epiphyseal dysplasia (SED), a type of skeletal dysplasia that represents a group of disorders. Spondylo-epiphyseal dysplasia affects the cartilage (flexible connective tissue) at the growing ends of the long bones (called epiphysis), with developmental features that may include disproportionate limbs and a short trunk causing short stature (dwarfism) and spinal deformities such as curvature (scoliosis), rounding of the back (kyphosis) and/or sway back (forward bending of the lower spine). The two most common forms of spondylo-epiphyseal dysplasia are SED-congenital (SEDc) and SED tarda.

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.

Learn More About Skeletal Dysplasia Care at Nemours Children’s Hospital »

Expert Care for Children With Multiple Epiphyseal Dysplasia in Central Florida

Spondylo-epiphyseal dysplasia is a rare condition and only a handful of hospitals in the country treat children with SED. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including spondylo-epiphyseal dysplasia-congenital, from both a genetic and orthopedic perspective.

 
Causes of Spondylo-Epiphyseal Dysplasia

Spondylo-epiphyseal dysplasia is caused by a genetic change (or mutation) in the gene involved in forming type II collagen which is found in the cartilage and the eyes. The defected gene, called COL2A1, can be passed down by a parent, but can also result from a random gene mutation without a family history of the disease.

 
SED Symptoms

Spondylo-epiphyseal dysplasia symptoms depend on the condition type. In addition to deformities in the spine (scoliosis, kyphosis, etc.) and long ends of the bones, SED can cause a shortened neck, long face, small mouth, barrel-shaped chest and flattened spine.

Children with spondylo-epiphyseal dysplasia, including spondylo-epiphyseal dysplasia-congenital, may also have trouble breathing, problems with vision and hearing and loss of bladder or bowel control. Your Nemours team of specialists will look for and assist in managing these symptoms.

Learn More About Spondylo-Epiphyseal Dysplasia and Related Children’s Health Topics From Nemours’ KidsHealth.org »

Evaluating Spondylo-Epiphyseal Dysplasia in Infants and Children

Sometimes spondylo-epiphyseal dysplasia (particularly spondylo-epiphyseal dysplasia-congenital, or SEDc) can be diagnosed in utero, or while the baby is still in the womb. Your child’s evaluation for spondylo-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.

 
Your Child’s First Visit: What to Expect

Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including spondylo-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
 
If Your Child Needs Additional Diagnostic Tests

At Nemours Children’s Hospital we provide advanced testing to help us diagnose spondylo-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 Spondylo-Epiphyseal Dysplasia (SED)

Skeletal dysplasias, including spondylo-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 spondylo-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.

Learn About Limb Lengthening at Nemours Children's Hospital »

 
Coping & Support for the Entire Family

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:

Learn More About the Support Services and Amenities at Nemours Children’s Hospital »