If your child’s been referred to Nemours for a possible diagnosis of skeletal dysplasia (such as achondroplasia), you’ve come to the right place. We’re one of the foremost health care systems in the world for skeletal dysplasia and dwarfism diagnosis and treatment — offering comprehensive medical and surgical expertise spanning multiple fields.
The skeletal dysplasias are a group of conditions characterized by abnormalities in the growth, development, shape, or integrity of the bones and cartilage. They can lead to a wide variety of medical problems, but the most common feature among them is dwarfism (defined as having a final adult height below 4' 10").
About one out of every 10,000 babies has dwarfism. Most skeletal dysplasias result from a spontaneous genetic mutation at or before conception. Children with skeletal dysplasias have multiple medical and social needs, many of which are unique to their condition.
Common types of skeletal dysplasia include:
- Campomelic Dysplasia
- Cartilage Hair Hypoplasia
- Diastrophic Dysplasia
- Ellis-Van Creveld Dysplasia
- Kniest Dysplasia
- Metatropic Dysplasia
- Morquio Syndrome
- Multiple Epiphyseal Dysplasia
- Primordial Dwarfism
- Spondylo-epiphyseal Dysplasia
- Thanatophoric Dysplasia
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
Online Support Service
- CaringBridge: visit this free site offering support and communication to help your family through your child's medical journey
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.