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 Ellis-Van Crevald 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
- 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
- Authorization for Treatment and Release of Information (PDF)
- Assignment of Benefits (PDF)
- Notice of Limited Liability (PDF)
Returning Patient Forms
- Patient Presents Without Legal Guardian (PDF)
Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families
Your child’s initial visit for skeletal dysplasia usually begins with a diagnostic visit through our Medical Genetics division. These visits are quite comprehensive and can take 1-2 hours to complete.
During the visit we’ll:
- obtain a thorough medical history and a three-generation family medical history
- review your child’s old medical records and previously obtained X-rays
- perform a physical examination, including detailed body measurements
- assess ranges of joint motions (how much each joint can move) and the relative length of the limb segments
To make a specific skeletal dysplasia diagnosis in an individual child, we look at all of the data we gather as a whole. But some skeletal dysplasias can take time to diagnose, so we may need to do another comprehensive evaluation.
Through the Medical Genetics clinic, we follow our patients at approximately six-month intervals until 6 years old. Then visits are typically spaced yearly.
Whatever kind of skeletal dysplasia diagnosis your family is facing, we treat every child as we would our own — your child, our promise.