Thanatophoric 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 thanatophoric 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.

Learn More About Thanatophoric Dysplasia

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Nemours Children's Hospital, Orlando

6535 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 thanatophoric dysplasia (TD), a severe form of skeletal dysplasia. Thanatophoric dysplasia is a genetic condition that occurs as one of two major types (I and II), with developmental features that may include extremely short limbs (with folds of extra skin), shortened ribs, underdeveloped lungs, large head with disproportionate facial features and a flat spine.

At Nemours Children’s Health System, 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 Thanatophoric Dysplasia

Thanatophoric dysplasia is a rare condition and only a handful of hospitals in the country manage TD in children. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including thanatophoric dysplasia, from both a genetic and orthopedic perspective.

Causes of Thanatophoric Dysplasia

Thanatophoric dysplasia is caused by genetic changes (or mutations) in the fibroblast growth factor receptor 3 gene (FGFR3) involved the development of bone and brain tissue. The genetic mutation can be passed down by one parent.

Thanatophoric Dysplasia Symptoms

In addition to extremely short limbs and ribs and excess skin, features of the more common thanatophoric dysplasia type I (TDI) include curved long bones (particularly thigh bones), a large head with a large soft spot (fontanel), protruding eyes and sunken nose. Children with TDII (thanatophoric dysplasia type II) usually have a cloverleaf-shaped skull, a taller spine and straight long bones.

Learn More About Thanatophoric Dysplasia and Related Children’s Health Topics From Nemours’ »

Evaluating Thanatophoric Dysplasia

Sometimes thanatophoric dysplasia can be diagnosed in utero, or while the baby is still in the womb. Your child’s evaluation for thanatophoric 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 thanatophoric 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 thanatophoric 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
Managing Thanatophoric Dysplasia

Managing thanatophoric dysplasia requires complex medical intervention that includes respiratory assistance, nutritional support and comfort. At Nemours, we have an experienced team of health professionals and well-equipped facilities to provide comprehensive multispecialty care for your child and family.

Skeletal dysplasias, including thanatophoric dysplasia, are often associated with complex medical and surgical needs. 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.

Learn More About Limb Lengthening and Reconstruction »

Coping & 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 »