Overview
Gabriele-de Vries syndrome (also sometimes called YWHAE-related intellectual disability or YDvS) is a rare genetic condition caused by changes in a gene called YWHAE. This gene plays an important role in how brain cells develop and communicate with each other. The syndrome mainly affects brain development, leading to intellectual disability, delayed speech and language, and behavioral challenges. Most people with this condition also have distinctive facial features that doctors can recognize. The condition affects multiple areas of development. Children with Gabriele-de Vries syndrome often have delays in reaching milestones like talking and learning. Many also experience behavioral issues such as attention problems, anxiety, or features similar to autism spectrum disorder. Some individuals have mild differences in muscle tone, making movement slightly harder in early childhood. Seizures have also been reported in some affected individuals. Currently, there is no cure for Gabriele-de Vries syndrome. Treatment focuses on managing symptoms and supporting development. This includes speech therapy, occupational therapy, physical therapy, special education support, and medications to manage seizures or behavioral symptoms when needed. With the right support, many individuals can make meaningful progress in communication and daily skills.
Also known as:
Key symptoms:
Intellectual disability (ranging from mild to moderate)Delayed speech and language developmentBehavioral challenges such as anxiety, attention difficulties, or autism-like featuresDistinctive facial features recognized by specialistsLow muscle tone (hypotonia) in infancyDelayed walking or motor milestonesSeizures in some individualsFeeding difficulties in infancyShort stature in some casesSleep disturbances
Clinical phenotype terms (50)— 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 Gabriele-de Vries syndrome.
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Specialists
View all specialists →No specialists are currently listed for Gabriele-de Vries 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 Gabriele-de Vries 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 genetic change does my child have in the YWHAE gene, and what does that mean for their prognosis?,Should other family members be tested for this genetic change?,What therapies do you recommend starting first, and how soon?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies we could participate in?,What kind of educational support will my child need, and how do I advocate for an IEP?,What does long-term care look like for adults with this condition?
Common questions about Gabriele-de Vries syndrome
What is Gabriele-de Vries syndrome?
Gabriele-de Vries syndrome (also sometimes called YWHAE-related intellectual disability or YDvS) is a rare genetic condition caused by changes in a gene called YWHAE. This gene plays an important role in how brain cells develop and communicate with each other. The syndrome mainly affects brain development, leading to intellectual disability, delayed speech and language, and behavioral challenges. Most people with this condition also have distinctive facial features that doctors can recognize. The condition affects multiple areas of development. Children with Gabriele-de Vries syndrome often h
How is Gabriele-de Vries syndrome inherited?
Gabriele-de Vries syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Gabriele-de Vries syndrome typically begin?
Typical onset of Gabriele-de Vries syndrome is infantile. Age of onset can vary across affected individuals.