Living with Thanatophoric dysplasia
A severe skeletal condition present at birth with very short limbs, a narrow chest, and underdeveloped lungs.
Understanding Thanatophoric dysplasia
Other features include a narrow chest, short ribs, underdeveloped lungs, and a large head with a large forehead and wide-set, prominent eyes. There are two forms. Type I has curved thigh bones and flattened spine bones, and type II has straight thigh bones and a moderate to severe skull difference called a cloverleaf skull. It starts during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short limbs
- Narrow chest
- Underdeveloped lungs (pulmonary hypoplasia)
- Larger than usual head (macrocephaly)
- Flattened spine bones (platyspondyly)
- Low muscle tone (hypotonia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the FGFR3 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: fgfr3-related thanatophoric dysplasia; td; td - thanatophoric dwarfism; thanatophoric dwarf; thanatophoric dwarfism; thanatophoric dwarfism syndrome
Patient organizations
- Little People of AmericaThanatophoric dysplasia · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Thanatophoric dysplasia.
Explore research for Thanatophoric dysplasia
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