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
Clinic Location: 5th Floor
Phone: (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
Our pediatric orthopedists at Nemours Children's Hospital see children with all types of skeletal dysplasia.
Skeletal dysplasias are a group of conditions characterized by abnormalities in the growth, development, shape, or integrity of the bones and cartilage. Skeletal dysplasias can lead to a wide variety of medical problems, but the most common feature among them is short stature. Our goal is to maximize your child’s mobility, correct deformity, and prevent future complications.
What to Expect on Your First Pediatric Orthopedic Visit
Your child’s initial visit usually begins with a diagnostic visit through our Department of Orthopedics. 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 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
Depending upon this evaluation, we may need to do some additional forms of testing.
Typically, we follow our patients at approximately six-month intervals until 6 years old. Then visits are typically spaced yearly. In addition to genetics, medical care, and specialist referrals, we’ll make sure your child gets emotional and psychological support to help cope with and manage the condition. Genetic counseling, therapy, and rehabilitation services are also available if needed.
Whatever kind of skeletal dysplasia diagnosis your family is facing, we treat every child as we would our own — your child, our promise.
At Nemours, we treat the whole child, not just the condition. Because pediatric orthopedic conditions and injuries can affect kids in many ways, we rely on a team approach that combines the expertise of our pediatric specialists throughout Nemours.
As a true children’s hospital, we can connect children and families to all the specialists they need, including:
- orthopedic surgeons
- physical therapists
- occupational therapists
- orthotists (specialists who fabricate and fit braces and other supports)
- prosthetists (specialists who fit all types of prostheses)
- social workers
We believe in family-centered care and want you to be an active participant in the decision-making, care, and healing process for your child. And if your child's treatment requires surgery or an overnight stay at Nemours Children’s Hospital, we’ll help make your family’s experience as easy and stress-free as possible.
A Hospital Designed by Families, for Families
At Nemours Children’s Hospital, family-centered care is at the heart of everything we do. In fact, families helped shape the unique amenities and convenient services that make our hospital like no other in the region.
You’ll feel right at home in one of our private patient rooms designed with input from families who know what it’s like to have a child in the hospital.
Our large, comfortable, single-patient rooms have sleeping accommodations for two parents, a private bathroom, wireless internet access, connections for DVD players and game systems, and two flat-screen TVs.
Other in-room features include:
- full floor-to-ceiling windows for natural light
- refrigerator for family meals and snacks
- wardrobe storage for personal items and a hotel-style safe
- GetWellNetwork interactive television (uniquely based on your child’s age, medical condition and more) and allows your child to watch TV, surf the web, check e-mail, play music and games, and learn about your Nemours health care team
Our “hospital within a garden” setting features many places for you and your family to go for fresh air and relaxation, including a one-acre interactive sensory discovery garden or one of our rooftop gardens on the second and fourth floors.
We have many more comforts and amenities such as:
- complimentary valet and parking
- kid-friendly commons areas for siblings
- café and coffee shop
- non-denominational chapel
- concierge services
If your child needs medical imaging, we offer some of the area’s most advanced pediatric radiology services here on campus at Nemours
Our unique services include:
- interventional radiology: Our team of experts uses image guidance to diagnose and treat diseases and tumors throughout the body. Certain conditions that previously required open surgery can now be treated by Nemours pediatric interventional radiologists. We are very fortunate to have the only dual-trained pediatric diagnostic and interventional radiologist in the state.
- neuroradiological or cardiovascular imaging, and fetal MRI (magnetic resonance imaging): Our subspecialty-trained pediatric radiologists see children with complex conditions who require this highly specialized imaging.
- Central Florida’s only 256-slice Brilliance iCT Scanner: We are one of only a handful of children’s hospitals in the country to have this latest generation CAT (or CT) scanner that scans faster than most machines and produces excellent images in a much shorter time with much less radiation exposure for the child.
Our team of board-certified pediatric radiologists and pediatric radiologic technologists are experts in the safe medical imaging of children of every age, even newborns.
We have also pledged our commitment to the “Image Gently” campaign of the Alliance for Radiation Safety in Pediatric Imaging, which is increasing awareness of the opportunities to promote radiation protection in the imaging of children.
At Nemours, we want to hear your concerns and share with you everything we can about your child's condition and treatment. If English is not your first language, we'll make sure you understand what to expect — in your language.
If your child has a complex or chronic condition we encourage you to take advantage of KidsTRACK, a unique service of Nemours Children’s Hospital. Located on the first floor of our hospital, KidsTRACK is designed to help families by providing expert assistance and information on all aspects of your child’s care, even before you leave our hospital or clinic.
A KidsTRACK care coordinator is available during every step of diagnosis, treatment and healing — helping your family make a smooth transition from Nemours Children's Hospital to home. Your coordinator works alongside the nursing/case managers in our subspecialty areas and acts as a single point of contact connecting you to medical and community resources.
Simply ask your physician for a referral to KidsTRACK
or call (407) 650-7715.
Connecting With Your Child's Primary Care Physician
We believe that one of the best ways to advance medicine to benefit children is through collaboration. We work closely with physicians in the community to triage their cases, offer expert diagnostics, and help to send patients to the right place for treatment.
NemoursOne, our electronic health record (EHR) is a secure, online environment that connects all phases of care for a child — inpatient, outpatient, at home, and at the referring physician's office. Using a special physician portal, primary care and referring physicians can securely access information about the care provided by our Nemours medical team and monitor a child’s progress any time, day or night.