Nemours is world-renowned for diagnosing and treating skeletal dysplasias, including Ellis-Van Creveld syndrome. It’s also sometimes called “chondroectodermal dysplasia” because it involves the skin, hair and nails, as well as differences in the cartilage and bones. If your baby has Ellis-Van Creveld syndrome, or you’re an expectant parent and need to get a diagnosis, we’re here to help. Our Nemours experts have the experience and training to answer your questions, ease your concerns, and build a coordinated long-term care team to give your child the best possible chance for a healthy future.

Learn More About Ellis-Van Creveld Syndrome 

Nemours offers a full range of care for newborns, kids and teens with Ellis-Van Creveld syndrome. Services vary by specialist and location, but may include:

• 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
• neonatal care for coordinated, critical care immediately after birth
• advanced medical imaging to monitor changes in the bones, joints and organs
  
• congenital heart defect expertise that includes heart surgery
• gastroenterology helps with nutrition support
  
• genetic testing to assist with diagnosis and family planning 
  
• orthopedic care from one of the largest and most widely respected pediatric programs in the world, providing innovative work limb realignment, as well as hand surgery
  
• orthotics that can be custom-made right in the hospital 
• otolaryngology (or “ENT”) expertise for ear infections and audiology needs
  
• pain management programs just for kids to help with symptoms or post-surgery pain
• physical medicine and rehabilitation offer physical, occupational and speech therapy
• psychology and social work to help kids emotionally cope with their condition 
  
• pulmonology care for respiratory needs as kids grow
  
• transition of care when it’s time for adult care and services

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, like Ellis-Van Creveld dysplasia. Once we’ve identified your child’s condition, our care teams work together to create a personalized treatment plan that meets your family’s needs.

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 Ellis-Van Creveld dysplasia achieve the highest possible function and quality of life through access to Nemours experts, clinical programs and support services, including:

• clinical trials research opportunities
• support services and community resources

Regional Ellis-Van Creveld 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.

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