Living with Thanatophoric dysplasia, type 2
A severe skeletal condition present at birth with a cloverleaf-shaped skull and straight thigh bones.
Understanding Thanatophoric dysplasia, type 2
It is noticed in the newborn period or infancy. People with this form can also have a narrow chest, underdeveloped lungs, a large head, a prominent forehead, a flat face, and bulging eyes. Hearing impairment, low muscle tone, and looser joints are also listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloverleaf-shaped skull
- Underdeveloped lungs
- Narrow chest
- Larger than usual head (macrocephaly)
- Low muscle tone (hypotonia)
- Hearing impairment
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: cloverleaf skull with thanatophoric dwarfism; cloverleaf skull-micromelic bone dysplasia syndrome; td2; thanatophoric dwarfism type 2; thanatophoric dwarfism-cloverleaf skull syndrome; thanatophoric dysplasia type 2
Patient organizations
- Little People of AmericaThanatophoric dysplasia, type 2 · 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, type 2.
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