Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications. If your child’s been diagnosed with Ellis-Van Crevald dysplasia (a type of skeletal dysplasia), we’re here to ease your concerns, answer your questions, and give your child the best possible chance for a healthy future.
Nemours Children's Hospital, Orlando
Locations & Doctors
For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.
- 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
Bring these forms for your first appointment:
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Returning Patient Forms
- Patient Presents Without Legal Guardian (PDF)
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Note: A parent or legal guardian must be with a child for a first visit.
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Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with Ellis-Van Creveld dysplasia (also known as “EVC”), a form of skeletal dysplasia often referred to as “chondro-ectodermal dysplasia” because of its ectodermal involvement (skin, hair and nails) and chondrodysplasia (cartilage and bone anomalies). EVC is a very rare genetic condition with developmental differences that may include an extra finger on each hand, short limbs causing short stature (dwarfism), shortened ribs, conical teeth that appear early and may be visible at birth, small lungs and congenital heart defects.
At Nemours, our goal is to help children with all forms of skeletal dysplasia, including Ellis-Van Creveld dysplasia, achieve the highest level of mobility, function and health possible. Here, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified and share a strong commitment to your child’s long-term health and wellness. As a team, we work together to manage the physical, emotional and social complexities that come with this condition, and to provide maximum ability and freedom as your child grows and develops.
Expert Care For Children With Ellis-Van Creveld Dysplasia in Central Florida
Ellis-Van Creveld dysplasia is a very rare condition and only a handful of hospitals in the country treat children with EVC. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including Ellis-Van Creveld dysplasia, from both a genetic and orthopedic perspective.
Ellis-Van Creveld dysplasia is caused by changes (mutations) in one of two genes along chromosome 4 called EVC and EVC2. These genes are important for normal growth and development, particularly bones and teeth. It’s inherited when both parents are carriers of the mutated genes.
Ellis-Van Creveld dysplasia is common among the Amish in Pennsylvania. Features include misshapen teeth and upper lip, shortened stature, shortened limbs and a long and narrow chest. Polydactyly, or six finger growth, is also common feature.
Children with Ellis-Van Creveld dysplasia may also have heart problems or breathing difficulty. Your Nemours team of specialists will look for and assist in managing these problems.
Evaluating Ellis-Van Creveld Dysplasia in Infants and Children
EVC is typically diagnosed in utero, or while the baby is still in the womb, with ultrasound imaging. However, there are other orthopedic conditions we’ll look for after delivery. Your newborn’s first evaluation at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in skeletal dysplasias.
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. Complications with the lung, heart, brain and genitourinary systems (reproductive organs and urinary system) are possible, so we’ll bring in other specialists (such as a pediatric cardiologist, pulmonologist, neurologist and/or urologist) as needed.
Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including EVC, a great deal of information is collected at the initial visit, so it 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 EVC 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
Treating Ellis-Van Creveld Dysplasia
Skeletal dysplasias, including Ellis-Van Creveld dysplasia, 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 Ellis-Van Creveld dysplasia, in some cases, surgical procedures and therapies can increase limb length, remove bone growths and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.
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