Living with Pallister-Hall syndrome
A genetic condition affecting many body parts, often with extra fingers or toes and a growth in the brain.
Understanding Pallister-Hall syndrome
Most people have extra fingers or toes (polydactyly), and some have skin joining fingers or toes. A typical feature is a growth in the brain called a hypothalamic hamartoma. Many of these cause no problems, but some lead to seizures or hormone changes. Signs and symptoms range from mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Growth in the brain (hypothalamic hamartoma)
- Extra fingers or toes (polydactyly)
- Skin joining fingers or toes (syndactyly)
- Hormone problems, such as adrenal insufficiency
- Closed anal opening (imperforate anus)
- Split uvula or drooping eyelids
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GLI3 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
Raymond A. Wood Foundation and Pituitary Network Association 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); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Raymond A. Wood Foundation, Pituitary Network Association
- 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 Raymond A. Wood 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
Changes in the GLI3 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: ano-cerebro-digital syndrome; hypothalamic hamartoblastoma syndrome; hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; pallister hall syndrome; phs
Patient organizations
- Raymond A. Wood FoundationPallister-Hall syndrome · United States
- Pull-thru NetworkPallister-Hall syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pallister-Hall syndrome.
Explore research for Pallister-Hall syndrome
Explore actively recruiting Pallister-Hall syndrome studies with HealthSpark.
Find actively recruiting studies for Pallister-Hall 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 Pallister-Hall 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 Pallister-Hall 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 Pallister-Hall 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.