Living with Antley-Bixler syndrome
A rare condition that mainly affects the shape of the skull and face and other bones, with differences from person to person.
Understanding Antley-Bixler syndrome
Signs vary a lot from person to person. They can include early closing of skull bones (craniosynostosis), an underdeveloped middle of the face, bulging eyes, and low-set ears. Some people also have fused arm bones, stiff joints, or differences in the urinary tract and genitals. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closing of skull bones (craniosynostosis)
- Bulging eyes (proptosis)
- Blocked back opening of the nose (choanal atresia)
- Bowed thigh bones
- Stiff joints
- Long, slender fingers (arachnodactyly)
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, brain and nervous system 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); Brain and nervous system specialists (neurologists); 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 FACES: The National Craniofacial Association 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 the exact cause is unknown in many cases, but some are due to changes in the FGFR2 gene or the POR gene. There appear to be dominant and recessive forms.
Also known as: abs; trapezoidocephaly-synostosis syndrome
Patient organizations
- FACES: The National Craniofacial AssociationAntley-Bixler syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Antley-Bixler syndrome.
Explore research for Antley-Bixler syndrome
Explore actively recruiting Antley-Bixler syndrome studies with HealthSpark.
Find actively recruiting studies for Antley-Bixler 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 Antley-Bixler 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 Antley-Bixler 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 Antley-Bixler 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.