Other Names for this Disease
- Simpson dysmorphia syndrome
- Bulldog syndrome
- Golabi-Rosen syndrome
- Dysplasia gigantism syndrome, X-linked
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macrosomia and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. Individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. Other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. Some people with the condition have mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including Wilms tumor and neuroblastoma. Some cases of SGBS are caused by mutations in the GPC3 gene and in other cases, the cause is unknown. It is inherited in an X-linked recessive manner.Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. It is an overgrowth syndrome, which means that affected individuals have
Last updated: 2/15/2011
- Giovanni Neri, Fiorella Gurrieri, Ginevra Zanni, Angela Lin. Clinical and Molecular Aspects of the Simpson-Golabi-Behmel Syndrome . American Journal of Medical Genetics. 1998; 79:279-283.
- Simpson-Golabi-Behmel syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome. Accessed 2/13/2011.
- Aaron James, Kathy Culver, Mahin Golabi . Simpson-Golabi-Behmel Syndrome. GeneReviews. December 19, 2006; http://www.ncbi.nlm.nih.gov/books/NBK1219/. Accessed 2/13/2011.
- A. Toutain. Simpson-Golabi-Behmel syndrome. Orphanet. October 2006; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Simpson%20Dysmorphia%20Syndrome. Accessed 2/14/2011.
- Genetics Home Reference (GHR) contains information on Simpson-Golabi-Behmel syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Simpson-Golabi-Behmel syndrome. Click on the link to view a sample search on this topic.