Living with Thanatophoric dysplasia type 1
A severe skeletal condition present at birth with short, bowed limbs, short ribs, and a larger head.
Understanding Thanatophoric dysplasia type 1
Limbs start growing more slowly during pregnancy. A fetal MRI can show differences in the temporal lobes of the brain and a narrow opening at the base of the skull (foramen magnum). After birth, features include a large head, a large soft spot, a prominent forehead, a flat midface, bulging eyes, and a low nasal bridge.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed thigh bones (femoral bowing)
- Short ribs and flattened spine bones (platyspondyly)
- Underdeveloped lungs
- Larger than usual head (macrocephaly)
- Prominent forehead (frontal bossing) and flat face
- Bulging eyes (proptosis)
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
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: 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 World Craniofacial Foundation 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: lethal short-limbed platyspondylic dwarfism, san diego type; platyspondylic lethal skeletal dysplasia, san diego type; td1; thanatophoric dwarfism type 1; thanatophoric dysplasia type i; thanatophoric dysplasia, type 1
Patient organizations
- 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 type 1.
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