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 pseudoachondroplasia (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.