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.

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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.

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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 at Nemours »

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 »

A Hospital Designed by Families, for Families

At Nemours Children’s Hospital, family-centered care is at the heart of everything we do. In fact, families helped shape the unique amenities and convenient services that make our hospital like no other in the region.

If Your Child Needs to Stay Overnight in Our Hospital

You’ll feel right at home in one of our private patient rooms designed with input from families who know what it’s like to have a child in the hospital.

Our large, comfortable, single-patient rooms have sleeping accommodations for two parents, a private bathroom, wireless Internet access, connections for DVD players and game systems, and two flat-screen TVs.

Other in-room features include:
  • full floor-to-ceiling windows for natural light
  • refrigerator for family meals and snacks
  • wardrobe storage for personal items and a hotel-style safe
  • GetWellNetwork interactive television (uniquely based on your child’s age, medical condition and more) and allows your child to watch TV, surf the Web, check e-mail, play music and games, and learn about your Nemours health care team.

Our “hospital within a garden” setting features many places for you and your family to go for fresh air and relaxation, including a one-acre interactive sensory discovery garden or one of our rooftop gardens on the second and fourth floors.

We have many more comforts and amenities such as:
  • complimentary valet and parking
  • kid-friendly commons areas for siblings
  • café and coffee shop
  • nondenominational chapel
  • concierge services

Learn More About Nemours Children’s Hospital »

Advanced Pediatric Medical Imaging Services Available Onsite

If your child needs medical imaging, we offer some of the area’s most advanced pediatric radiology services here on campus at Nemours
Children’s Hospital.

Our unique services include:
  • interventional radiology: Our team of experts uses image guidance to diagnose and treat diseases and tumors throughout the body. Certain conditions that previously required open surgery can now be treated by Nemours pediatric interventional radiologists. We are very fortunate to have the only dual-trained pediatric diagnostic and interventional radiologist in the state.
  • neuroradiological or cardiovascular imaging, and fetal MRI (magnetic resonance imaging): Our subspecialty-trained pediatric radiologists see children with complex conditions who require this highly specialized imaging.
  • Central Florida’s only 256-slice Brilliance iCT Scanner: We are one of only a handful of children’s hospitals in the country to have this latest generation CAT (or CT) scanner that scans faster than most machines and produces excellent images in a much shorter time with much less radiation exposure for the child.

Our team of board-certified pediatric radiologists and pediatric radiologic technologists are experts in the safe medical imaging of children of every age, even newborns.

We have also pledged our commitment to the “Image Gently” campaign of the Alliance for Radiation Safety in Pediatric Imaging, which is increasing awareness of the opportunities to promote radiation protection in the imaging of children.

Learn More About Medical Imaging at Nemours Children's Hospital »

Family-Centered Care Means We're Here for You

At Nemours, we want to hear your concerns and share with you everything we can about your child's condition and treatment. If English is not your first language, we'll make sure you understand what to expect — in your language.

Learn More About Interpreter Services at Nemours Children’s Hospital »

With Your Family From Clinic or Hospital to Home: KidsTRACK

If your child has a complex or chronic condition we encourage you to take advantage of KidsTRACK, a unique service of Nemours Children’s Hospital. Located on the first floor of our hospital, KidsTRACK is designed to help families by providing expert assistance and information on all aspects of your child’s care, even before you leave our hospital or clinic.

A KidsTRACK care coordinator is available during every step of diagnosis, treatment and healing — helping your family make a smooth transition from Nemours Children's Hospital to home. Your coordinator works alongside the nursing/case managers in our subspecialty areas and acts as a single point of contact connecting you to medical and community resources.

Simply ask your physician for a referral to KidsTRACK
or call (407) 650-7715.

Learn More About KidsTRACK at Nemours Children's Hospital »