Overview
Bainbridge-Ropers syndrome (also called BRPS) is a rare genetic condition caused by changes (mutations) in the ASXL3 gene. This gene plays an important role in how the body controls gene activity during development, especially in the brain. When the ASXL3 gene does not work properly, it leads to problems with brain development, growth, and other body systems. Children with Bainbridge-Ropers syndrome typically have significant intellectual disability and delayed development. They may be slow to reach milestones like sitting, walking, and talking. Many children have feeding difficulties starting in infancy, low muscle tone (feeling floppy), and distinctive facial features. Some children may also experience seizures. Growth is often poor, and many affected individuals are smaller than expected for their age. There is currently no cure for Bainbridge-Ropers syndrome. Treatment focuses on managing symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and special education services. Feeding support and seizure management may also be needed. Early intervention programs can help children reach their full potential. Because this condition affects multiple body systems, a team of specialists usually works together to provide the best care.
Also known as:
Key symptoms:
Severe intellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingLow muscle tone (floppiness)Feeding difficulties in infancyPoor weight gain and growthSeizures or epilepsyDistinctive facial featuresSmall head sizeSleep disturbancesRepetitive or self-stimulating behaviorsLimited or absent speechConstipation or other digestive issuesHigh pain toleranceHand flapping or other stereotypic movements
Clinical phenotype terms (41)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsn-Lorem Foundation — PHASE1, PHASE2
University of California, Los Angeles
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Bainbridge-Ropers syndrome.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Bainbridge-Ropers syndrome.
Community
No community posts yet. Be the first to share your experience with Bainbridge-Ropers syndrome.
Start the conversation →Latest news about Bainbridge-Ropers syndrome
Disease timeline:
New recruiting trial: ASXL-Related Disorders Natural History Study
A new clinical trial is recruiting patients for Bainbridge-Ropers syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific ASXL3 mutation does my child have, and what does it mean for their development?,What therapies should we start right away, and how often should they occur?,Should we be screening for seizures, and what signs should I watch for?,What feeding strategies or nutritional support do you recommend?,Are there any clinical trials or research studies we could participate in?,What is the recommended schedule for follow-up visits with each specialist?,What resources are available for communication support and assistive technology?
Common questions about Bainbridge-Ropers syndrome
What is Bainbridge-Ropers syndrome?
Bainbridge-Ropers syndrome (also called BRPS) is a rare genetic condition caused by changes (mutations) in the ASXL3 gene. This gene plays an important role in how the body controls gene activity during development, especially in the brain. When the ASXL3 gene does not work properly, it leads to problems with brain development, growth, and other body systems. Children with Bainbridge-Ropers syndrome typically have significant intellectual disability and delayed development. They may be slow to reach milestones like sitting, walking, and talking. Many children have feeding difficulties startin
How is Bainbridge-Ropers syndrome inherited?
Bainbridge-Ropers syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Bainbridge-Ropers syndrome typically begin?
Typical onset of Bainbridge-Ropers syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Bainbridge-Ropers syndrome?
Yes — 2 recruiting clinical trials are currently listed for Bainbridge-Ropers syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Bainbridge-Ropers syndrome?
19 specialists and care centers treating Bainbridge-Ropers syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.