Living with Simpson-Golabi-Behmel syndrome
An overgrowth condition, mostly in males, with a large body at birth and differences in the face, chest, heart and kidneys.
Understanding Simpson-Golabi-Behmel syndrome
Babies are much larger than usual at birth and keep growing at an unusual rate. Facial features can include widely spaced eyes, a large mouth and tongue, and palate differences. Other features may include extra nipples, hernias, heart defects, and kidney, liver and spleen differences. Some people have mild to severe intellectual disability and others have typical intelligence. People with mild cases often live into adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large size at birth and fast growth
- Large tongue (macroglossia)
- Coarse facial features
- Cleft palate
- Extra nipples
- Heart defects
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
Specialists who may be involved include brain and nervous system specialists, cancer specialists, digestive system specialists and ear, nose, and throat specialists.
- 3Consider genetic testing
Changes in GPC3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 FACES: The National Craniofacial Association and other patient organizations
- 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 lists changes in the GPC3 gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: bulldog syndrome; dgsx; golabi-rosen syndrome; sara angers syndrome; sdys; sgb syndrome
Patient organizations
- FACES: The National Craniofacial AssociationSimpson-Golabi-Behmel syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Simpson-Golabi-Behmel syndrome.
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