Overview
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome is a rare genetic condition caused by changes (mutations) in the STAG1 gene. This gene plays an important role in how cells divide and how the brain develops before and after birth. Because of this, people with the condition often have intellectual disability, meaning they may learn more slowly and need extra support with thinking, communication, and daily tasks. The condition affects several parts of the body at once. Most people have distinctive facial features that doctors can recognize, along with gastroesophageal reflux disease (GERD), which is when stomach acid flows back up into the food pipe, causing discomfort or feeding problems. Other common features include delayed development of speech and movement, behavioral challenges, and sometimes seizures. There is currently no cure for STAG1-related syndrome. Treatment focuses on managing each symptom — for example, medications or dietary changes for reflux, speech and occupational therapy for developmental delays, and anti-seizure medications if needed. Early intervention and ongoing support from a team of specialists can make a meaningful difference in quality of life. This condition is also sometimes referred to as STAG1 syndrome or STAG1-related neurodevelopmental disorder.
Key symptoms:
Intellectual disability (difficulty with learning and thinking)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingGastroesophageal reflux (stomach acid backing up into the food pipe)Distinctive facial features recognized by doctorsBehavioral challenges such as hyperactivity or anxietySeizures in some individualsFeeding difficulties, especially in infancyShort statureMild to moderate muscle weakness or low muscle tone
Clinical phenotype terms (38)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome.
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Specialists
View all specialists →No specialists are currently listed for STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome.
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 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome.
Community
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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 type of STAG1 mutation does my child have, and what does that mean for their outlook?,What therapies should we start right away, and how often should they happen?,How should we manage the reflux, and when should we consider changing the treatment?,What signs of seizures should we watch for, and what should we do if one happens?,Are there any clinical trials or research studies we could join?,What kind of educational support will my child need, and how do we access it?,Should other family members be tested for STAG1 changes?
Common questions about STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
What is STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome?
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome is a rare genetic condition caused by changes (mutations) in the STAG1 gene. This gene plays an important role in how cells divide and how the brain develops before and after birth. Because of this, people with the condition often have intellectual disability, meaning they may learn more slowly and need extra support with thinking, communication, and daily tasks. The condition affects several parts of the body at once. Most people have distinctive facial features that doctors can recognize, along with ga
How is STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome inherited?
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome typically begin?
Typical onset of STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome is infantile. Age of onset can vary across affected individuals.