Nemours is world-renowned for the diagnosis and treatment of all types of skeletal dysplasia — even the rarest forms. We work as a team to maximize children’s function, correct limb differences, manage medical issues and prevent future complications. All skeletal dysplasias (SDs) are genetic conditions. With advances in genetic and prenatal testing, some children can be diagnosed with skeletal dysplasia while they are still developing in the womb. Once a diagnosis is made, we can began to follow your child with care that includes prenatal consults, an advanced delivery program or care as soon as your child is born. Our expert team of complex care pediatricians and pediatric orthopedic surgeons are here to answer your questions and provide the latest treatment options.

Learn More About Skeletal Dysplasia 

We diagnose and treat a full spectrum of skeletal dysplasia in infants, kids and teens — even babies still growing in the womb. 

• Achondroplasia
• Campomelic Dysplasia
• Cartilage Hair Hypoplasia
• Diastrophic Dysplasia
• Ellis-Van Creveld Dysplasia
• Hypochondroplasia
• Kniest Dysplasia
• Metatropic Dysplasia
• Morquio Syndrome
• Multiple Epiphyseal Dysplasia
• Microcephalic Osteodysplastic Primordial Dwarfism, Type II (MOPDII)
• Pseudoachondroplasia
• Spondylo-epiphyseal Dysplasia
• Thanatophoric Dysplasia

Children with skeletal dysplasias have multiple medical and social needs, many of which are unique to their condition. Nemours offers a full range of care for newborns, kids and teens with skeletal dysplasia. Services vary by specialist and location, but may include:

• advanced medical imaging to monitor changes in the bones and joints, as well as organs
• assistive technology to help kids communicate, learn and get around
• fetal diagnostic testing in our perinatology and fetal medicine centers to help us diagnose and make a treatment plan for when your baby’s born
• genetic testing to assist with diagnosis and family planning 
• neonatal care for expert infant medical care right after birth
• orthopedic care from one of the largest and most widely respected pediatric programs in the world, providing innovative work in spine surgery and limb realignment
• orthotics and prosthetics shops that can be custom-made right in the hospital 
• pain management programs just for kids
• physical medicine and rehabilitation offer physical, occupational and speech therapy
• plastic surgery for reconstruction your child might need for function and appearance
• psychology and social work to help your child emotionally cope with their condition 
• surgery by pediatric neurosurgeons for problems affecting the nerves or brain
• transition of care when it’s time for adult care and services

Our team of complex care pediatricians, pediatric orthopedists, genetic counselors, nurse practitioners, anesthesiologists, physical therapists, neurosurgeons and others all we work together to create a personalized treatment plan.

Treatment is led by our world-renowned pediatric orthopedic experts, including Dr. William Mackenzie. Since skeletal dysplasia can evolve and change with time, Nemours has established one of the world’s top pediatric imaging programs to track and measure changes to children’s bodies.  

Our care navigators coordinate appointments since most kids need appointments with different specialists, and some may need multiple surgeries. We also help kids with skeletal dysplasia achieve the highest possible function and quality of life through access to Nemours experts and support services, including:

• clinical trials research opportunities
• support services and community resources

Regional Skeletal Dysplasia Highlights

Services, programs, facilities and care teams differ at each location. Call for details.

Sometimes the best support and peace of mind comes from families who’ve been there. Meet some of the inspiring kids we’ve been honored to treat.

See Patient Stories »