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
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Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with skeletal dysplasia (a group of complex disorders that cause bone and cartilage to grow abnormally). Skeletal dysplasias are mostly genetic conditions, meaning they are caused by changes (or mutations) in the genes responsible for skeletal growth and development.
At Nemours, our goal is to help children with skeletal dysplasia participate as fully as possible in school and other activities so they can enjoy a playful childhood and be well prepared for adolescence and adulthood.
Learn More About:
- Pediatric Orthopedic Care at Nemours Children’s Hospital
- How We Treat Genetic Disorders at Nemours Children’s Hospital
Expert Care for Children With Skeletal Dysplasia in Central Florida
Skeletal dysplasias are relatively rare — about 1 in 10,000 births — and only a handful of hospitals in the country treat children with skeletal dysplasia. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia from both a genetic and orthopedic perspective.
Nemours’ distinguished reputation in pediatric orthopedics didn't happen overnight. We have been setting the standard for pediatric orthopedic care since 1940, when Alfred I. duPont’s philanthropic vision was first realized through the creation of the duPont Institute in Delaware — a place which, for 40 years, was devoted entirely to pediatric orthopedics and led by renowned pediatric orthopedists in the developing field.
Since then, we’ve expanded our geographic reach through Nemours Children’s Health System locations in Pennsylvania, New Jersey and Florida — including Nemours Children’s Hospital in Orlando.
Together, we share a commitment to offering procedural and technological excellence and the latest in clinical research and training. When you choose Nemours for your child’s orthopedic care, know that you’re choosing the most advanced, highest quality care available. Whatever kind of pediatric orthopedic problem your family is facing, Nemours specialists will do everything in their power to give your child the very best, most comprehensive and compassionate care available.
Skeletal dysplasias generally fall into two types: short-trunk and short-limbed depending on which is more extensively involved. There are more than 300 forms of skeletal dysplasia that range from common (such as achondroplasia) to extremely rare (such as Kniest dysplasia).
At Nemours, we treat nearly every form of skeletal dysplasia in children, including:
- achondroplasia (most common form of short-limbed dysplasia affecting how cartilage converts into bone)
- campomelic dysplasia (severe disorder that causes bending, or bowing, of the long bones, among other features)
- cartilage hair hypoplasia (short-limb dysplasia that causes cartilage abnormalities and fine, sparse hair)
- diastrophic dysplasia (short-limb type that leads to joint deformities and limited movement)
- Ellis-Van Creveld dysplasia (rare short-limb form that causes growth of additional fingers and abnormalities in the teeth, skin and fingernails)
- hypochondroplasia (a milder form of achondroplasia)
- Kniest dysplasia (extremely rare form of skeletal dysplasia that causes shortened trunk and limbs as well as vision and hearing problems)
- metatropic dysplasia (short-limb dysplasia that causes progressive spine curvature, or kyphscoliosis, and shortened joints)
- Morquio syndrome (disease that affects tissues, bones and major organs)
- multiple epiphyseal dysplasia (affects the formation of the ends of the long bones causing joint pain, deformity and waddling gait)
- primordial dwarfism (group of conditions that cause growth delay in the early stages of development in the womb)
- pseudoachondroplasia (short-limb skeletal dysplasia that causes joint pain and progressive joint disease, as well as unusual range of motion)
- spondylo-epiphyseal dysplasia (group of short-trunk dysplasias that affect the spine and the ends of the long bones)
- thanatophoric dysplasia (severe form of skeletal dysplasia that causes extremely short limbs, small ribcage and extra skin folds in the arms and legs)
There are many distinct features that exist among the different types of skeletal dysplasia. Some of these features may be apparent while the baby is still in the womb, at birth or months or years later as the child grows and develops.
Generally, skeletal dysplasia symptoms include:
- short stature (dwarfism)
- shortened limbs
- abnormal trunk size (too short or long)
- abnormal ribcage (too small or narrow)
- discrepancy in limb length (asymmetrical growth)
- abnormal bone growth (thick, thin or easily broken)
- cartilage defects
Depending on the type, skeletal dysplasias can cause other medical issues such as delayed motor skill development, spinal curvature (scoliosis), bowed legs, limited joint flexibility, breathing problems and hearing loss. Your Nemours team of specialists will look for and treat these problems if they develop.
Most skeletal dysplasias are genetic. Many occur because of a spontaneous genetic mutation (or change) to the sperm or egg at or before conception, while others are caused by genetic mutations inherited from one or both parents. It’s unclear what causes the genetic change.
Evaluating Skeletal Dysplasia in Infants and Children
At Nemours, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified to evaluate and diagnose even the rarest forms of skeletal dysplasia. Together we share a strong commitment to your child’s long-term health and wellness, with a common goal to maximize your child’s mobility, correct deformity and prevent future complications.
Your child’s evaluation for skeletal dysplasia will begin with a diagnostic appointment with an orthopedic expert in skeletal dysplasia. 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.
Some types of skeletal dysplasia are extremely complex so we collect a great deal of information at the initial visit. This visit 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
At Nemours Children’s Hospital we provide advanced testing to help us diagnose skeletal dysplasias 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
From Nemours’ KidsHealth.org:
Treating Skeletal Dysplasia at Nemours Children’s Hospital
Skeletal dysplasias are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals in more than 30 major specialties and well-equipped facilities to provide ongoing multispecialty care with convenience and continuity.
While there is no cure or simple treatment for skeletal dysplasia, in some cases, surgical procedures and therapies can increase limb length, improve mobility and repair (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.
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Your Child’s Coordinated Skeletal Dysplasia Care
At Nemours, we treat the whole child, not just the condition. Because skeletal dysplasia conditions can affect kids in many ways, we rely on a team approach that combines the expertise of our pediatric specialists throughout Nemours. As an organization fully devoted to children’s health, we can quickly and seamlessly connect your child and family to pediatric specialists who are at the forefront of their respective fields.
In addition to pediatric orthopedists, orthopedic surgeons and geneticists, your child’s skeletal dysplasia care team may include:
- physical therapists
- occupational therapists
- orthotists (specialists who fabricate and fit braces and other supports)
- prosthetists (specialists who fit all types of prostheses)
We’ll also bring in specialists experienced in treating skeletal dysplasia in children (pediatric cardiologists, pulmonologists, neurologists, urologists) whenever needed.
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 skeletal dysplasia treatment requires surgery or an overnight stay at Nemours Children’s Hospital, we’ll be here every step of the way to answer questions and ease concerns.
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:
- social work
- Child Life services
- mental health counseling
- patient and family education
- spiritual care
- support groups
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No matter where your child receives care at Nemours, your medical team (including your primary care provider) can access your child’s medical history, test results and visit notes anytime through our award-winning electronic health record system.
You can also view parts of your child's health records, communicate with your Nemours care team, make appointments, request prescription refills and more through our MyNemours online patient portal.
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.