Living with Hartsfield-Bixler-Demyer syndrome
A rare condition with a brain development difference (holoprosencephaly) and a split-hand or split-foot difference (ectrodactyly).
Understanding Hartsfield-Bixler-Demyer syndrome
Holoprosencephaly happens when the brain doesn't divide properly into right and left halves before birth, and severity ranges from mild to severe. People often have other brain differences, including those that affect hormones that direct sexual development, and these can cause seizures, feeding difficulties, and trouble regulating temperature and sleep. Development is delayed, from mild to severe. Ectrodactyly is a deep split in the hand or foot. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brain development difference (holoprosencephaly)
- Split hand or foot (ectrodactyly)
- Cleft palate
- Delayed development
- Small eyes and drooping eyelids
- Early closing of skull joints (craniosynostosis)
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR1 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); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations 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
Changes in the FGFR1 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: hartsfield bixler demyer syndrome; hartsfield syndrome; holoprosencephaly-ectrodactyly-cleft lip palate syndrome; holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate; holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
Patient organizations
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHartsfield-Bixler-Demyer syndrome · 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 Hartsfield-Bixler-Demyer syndrome.
Explore research for Hartsfield-Bixler-Demyer syndrome
Explore actively recruiting Hartsfield-Bixler-Demyer syndrome studies with HealthSpark.
Find actively recruiting studies for Hartsfield-Bixler-Demyer 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 Hartsfield-Bixler-Demyer 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 Hartsfield-Bixler-Demyer 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 Hartsfield-Bixler-Demyer 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.