Kniest Dysplasia

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 Kniest 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.

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Nemours Children's Hospital, Orlando


13535 Nemours Parkway
Orlando, FL 32827
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For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.

 
What to Bring
  • 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
New Patients

Bring these forms for your first appointment:

Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
 
Forms & Resources
New Patient Forms
Returning Patient Forms
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with Kniest dysplasia, a type of skeletal dysplasia that affects the cartilage (flexible connective tissue). Kniest dysplasia is a genetic condition with developmental features that may include short limbs and a short trunk causing short stature (dwarfism), deformities in the joints, spine and vision problems.

At Nemours, our goal is to help children with all forms of skeletal 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.

Learn More About Skeletal Dysplasia Care at Nemours Children’s Hospital »

Expert Care for Children With Kniest Dysplasia in Central Florida

Kniest dysplasia is an extremely rare condition and only a handful of hospitals in the country treat children with this condition. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including Kniest dysplasia, from both a genetic and orthopedic perspective.

 
Causes of Kniest Dysplasia

Kniest dysplasia is caused by a genetic change (or mutation) in the gene involved in forming type II collagen which is found in the cartilage and the eyes. The defected gene, called COL2A1, can be passed down by a parent, but can also result without a family history of the disease.

 
Kniest Dysplasia Symptoms

Kniest dysplasia causes holes to form in the cartilage, which results in cartilage weakness, joint swelling and pain. In addition to short limbs, short trunk and short stature, Kniest dysplasia features include flat face, wide forehead and eyes, cleft palate (hole in the roof of the mouth), a rounded short neck, broad chest and dumbbell-shaped bones in the arms and legs.

Children with Kniest dysplasia may also have a flat spine, a sideways curvature of the spine (scoliosis), trouble breathing and vision and hearing problems. Your Nemours team of specialists will look for and assist in managing these symptoms.

Evaluating Kniest Dysplasia in Infants and Children

Sometimes Kniest dysplasia can be diagnosed in utero (while a baby is still in the womb). Your child’s evaluation for Kniest dysplasia 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.

 
Your Child’s First Visit: What to Expect

Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including Kniest dysplasia, 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
 
If Your Child Needs Additional Diagnostic Tests

At Nemours Children’s Hospital we provide advanced testing to help us diagnose Kniest dysplasia 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 Kniest Dysplasia

Skeletal dysplasias, including Kniest dysplasia, are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals and well-equipped facilities to provide convenient, comprehensive multispecialty care for your child and family.

While there is no cure or simple treatment for Kniest dysplasia, in some cases, surgical procedures may increase limb length and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.

Learn About Limb Lengthening and Reconstruction at Nemours Children’s Hospital »

 
Coping and Support for the Entire Family

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:

Learn More About the Support Services and Amenities at Nemours Children’s Hospital »

 
Where We Provide Care: Where and When You Need It

Our specialty inpatient and outpatient care services are offered on the same floor of our hospital, a design (recommended by our Family Advisory Council) that fosters maximum collaboration among your child’s specialists, and, just as important, is convenient for your family.

What’s more, some of the very same pediatric specialists your child sees at Nemours Children’s Hospital also provide convenient care at our specialty locations in downtown Orlando, Lake Mary and Melborne.

 
Electronic Health Record System: Keeping Track of Your Child’s Care

No matter where your child receives care at Nemours, your medical team (including your primary care provider) can keep track of your child’s progress and 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.

Learn More About MyNemours »