Kniest Dysplasia

Internationally Recognized Treatment for Rare Forms of Skeletal Dysplasia

Nemours is world-renowned for the diagnosis and treatment of skeletal dysplasias, including Kniest dysplasia (sometimes called pseudometatropic or metatropic dysplasia type II). Kniest dysplasia is a rare form of cartilage dysplasia. At Nemours, we work as a team to maximize children’s mobility, correct deformity and prevent future complications. If your child has been diagnosed with Kniest dysplasia, we’re here to ease your concerns, answer your questions and give your child the best possible chance for a healthy future.

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Services We Offer for Kniest Dysplasia

Nemours offers a full range of care for newborns, kids and teens with Kniest 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
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 that can be custom-made right in the hospital
ophthalmology to monitor and treat serious eye problems in kids with Kniest dysplasia, such as retinal detachment and cataracts
pain management programs just for kids
physical medicine and rehabilitation offer physical, occupational and speech therapy
plastic surgery for reconstruction needed for function and appearance, including increased chances of cleft lip or palate
psychology and social work to help kids emotionally cope with their condition
pulmonology care care for newborns with tracheomalacia (softening of the windpipe) and respiratory issues as they grow
surgery by pediatric neurosurgeons for problems affecting the nerves or brain
transition of care when it’s time for adult care and services

Why Choose Us for Kniest Dysplasia Diagnosis and Care

Nemours Children’s Health System has been recognized for delivering advanced pediatric orthopedic care since 1940. Families from all over the world travel to see our skeletal dysplasia experts. Our genetics doctors have the experience and training to diagnose even the rarest types of skeletal dysplasia. Once we’ve identified your child’s condition, 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 to see different specialists, and some may need multiple surgeries. We also help kids with Kniest 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 Kniest Dysplasia Highlights

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

Delaware Valley/Greater Philadelphia

US News and World Report's Best Children's Hospital for Orthopedics

We offer complete care for children with Kniest dysplasia at Nemours/Alfred I. duPont Hospital for Children (Wilmington, Del.) and select Nemours duPont Pediatrics locations.

duPont Hospital for Children is ranked among the best children’s hospitals in the nation for pediatric orthopedics and surgery by U.S. News and World Report .

Central Florida

We offer complete care for children with Kniest dysplasia at Nemours Children’s Hospital (Orlando) and select Nemours Children’s Specialty Care locations.

Northeast Florida

We offer complete care for children with Kniest dysplasia at Nemours Children’s Specialty Care, Jacksonville and our hospital affiliates, Wolfson Children’s Hospital and Mayo Clinic in Florida, with outpatient and follow-up appointments available at select Nemours locations.

Nemours orthopedic specialists provide the care and orthopedic surgery and hold dual physician leadership roles at Wolfson Children’s Hospital’s orthopedics team, ranked by U.S. News & World Report as one of the 50 best children’s hospitals in the nation for orthopedics.

Northwest Florida

We offer care for children with Kniest dysplasia at Nemours Children’s Specialty Care, Pensacola and our hospital affiliate, West Florida Healthcare, with outpatient and follow-up appointments also available at select Nemours Children’s Specialty Care locations.