Living with Simpson-Golabi-Behmel syndrome type 1
An overgrowth condition with large size before and after birth, distinctive facial features and varied organ differences.
Understanding Simpson-Golabi-Behmel syndrome type 1
Distinctive features include a large head, coarse facial features, a large mouth and tongue, and palate differences. Many people have mild to severe intellectual disability. Other findings can include extra nipples, hernias, heart and kidney differences, skeletal changes and extra fingers. GARD says people have a higher risk of embryonal tumors, such as Wilms tumor and hepatoblastoma.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Large size before and after birth
- Large head (macrocephaly)
- Coarse facial features
- Large tongue and mouth
- Intellectual disability
- Heart defects present from birth
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: dgsx golabi-rosen syndrome; dysplasia gigantism syndrome, x-linked; gpc3 simpson-golabi-behmel syndrome; gpc3-related simpson-golabi-behmel syndrome type 1; sgbs1; simpson-golabi-behmel syndrome caused by mutation in gpc3
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Simpson-Golabi-Behmel syndrome type 1.
Explore research for Simpson-Golabi-Behmel syndrome type 1
Explore actively recruiting Simpson-Golabi-Behmel syndrome type 1 studies with HealthSpark.
Find actively recruiting studies for Simpson-Golabi-Behmel syndrome type 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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