Overview
Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is a very rare genetic condition that mainly affects males. It belongs to a group of conditions called overgrowth syndromes, meaning that babies with this condition are often larger than usual at birth and may continue to grow faster than expected. SGBS2 is sometimes called Behmel syndrome type 2 or Simpson dysmorphia syndrome type 2. Unlike the more common type 1 form of this syndrome, SGBS2 is linked to a different gene and tends to have a more severe course. The condition affects multiple parts of the body. Children with SGBS2 often have distinctive facial features, intellectual disability, and problems with the heart, kidneys, and skeleton. Some children also experience seizures and low muscle tone, which can make movement and feeding difficult in early life. The nervous system is frequently involved, and developmental delays are common. There is currently no cure for SGBS2. Treatment focuses on managing individual symptoms, such as using anti-seizure medications, physical and occupational therapy, and monitoring and treating heart or kidney problems. Because the condition is so rare, care is usually coordinated by a team of specialists working together with a clinical geneticist. Early intervention and supportive therapies can help improve quality of life and developmental outcomes for affected children.
Also known as:
Key symptoms:
Larger than average body size at birth (overgrowth)Intellectual disability or learning difficultiesLow muscle tone (floppiness) in infancySeizuresDistinctive facial features such as a broad forehead, wide-set eyes, and a large mouthHeart defectsKidney abnormalitiesSkeletal differences, including extra fingers or toes (polydactyly)Delayed development and milestonesFeeding difficulties in infancyShort stature in some cases despite early overgrowthHearing loss in some individuals
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Simpson-Golabi-Behmel syndrome type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Simpson-Golabi-Behmel syndrome type 2 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Simpson-Golabi-Behmel syndrome type 2.
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 Simpson-Golabi-Behmel syndrome type 2.
Community
No community posts yet. Be the first to share your experience with Simpson-Golabi-Behmel syndrome type 2.
Start the conversation →Latest news about Simpson-Golabi-Behmel syndrome type 2
No recent news articles for Simpson-Golabi-Behmel syndrome type 2.
Follow this condition to be notified when news becomes available.
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.Which organs are affected in my child's case, and how serious are these problems?,What genetic testing should be done, and should other family members be tested?,What therapies should we start right away to support my child's development?,What signs should prompt us to go to the emergency room?,Are there any clinical trials or research studies we could join?,How often should my child be seen by each specialist?,What educational support will my child likely need as they grow?
Common questions about Simpson-Golabi-Behmel syndrome type 2
What is Simpson-Golabi-Behmel syndrome type 2?
Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is a very rare genetic condition that mainly affects males. It belongs to a group of conditions called overgrowth syndromes, meaning that babies with this condition are often larger than usual at birth and may continue to grow faster than expected. SGBS2 is sometimes called Behmel syndrome type 2 or Simpson dysmorphia syndrome type 2. Unlike the more common type 1 form of this syndrome, SGBS2 is linked to a different gene and tends to have a more severe course. The condition affects multiple parts of the body. Children with SGBS2 often have distin
How is Simpson-Golabi-Behmel syndrome type 2 inherited?
Simpson-Golabi-Behmel syndrome type 2 follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Simpson-Golabi-Behmel syndrome type 2 typically begin?
Typical onset of Simpson-Golabi-Behmel syndrome type 2 is neonatal. Age of onset can vary across affected individuals.