Living with Trigonocephaly-broad thumbs syndrome
A rare genetic condition with a triangle-shaped forehead from early skull closure, plus broad thumbs and toes.
Understanding Trigonocephaly-broad thumbs syndrome
Skull seams close early (craniosynostosis). People can also have shallow eye sockets, an unusual nose, fingers bent to the side, and broad toes with an extra bone at the tip. It is noticed in the newborn period or infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Triangle-shaped forehead (trigonocephaly)
- Early closing of skull seams (craniosynostosis)
- Shallow eye sockets
- Fingertips bent to the side
- Broad toes
- An unusually shaped nose
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: hunter rudd hoffmann syndrome; hunter-rudd-hoffmann syndrome; trigonocephaly with broad thumb syndrome
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 Trigonocephaly-broad thumbs syndrome.
Explore research for Trigonocephaly-broad thumbs syndrome
Explore actively recruiting Trigonocephaly-broad thumbs syndrome studies with HealthSpark.
Find actively recruiting studies for Trigonocephaly-broad thumbs syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Trigonocephaly-broad thumbs syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Trigonocephaly-broad thumbs syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Trigonocephaly-broad thumbs syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.