National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Simpson-Golabi-Behmel syndrome


Other Names:
SGBS1; Simpson dysmorphia syndrome; Bulldog syndrome; SGBS1; Simpson dysmorphia syndrome; Bulldog syndrome; Golabi-Rosen syndrome; Dysplasia gigantism syndrome, X-linked; SGBS See More
Categories:
Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (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. The infantile lethal form of SGBS is sometimes known as SGBS type 2.[1][2]

People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large tongue (macroglossia), and abnormalities of the roof of the mouth (palate).[3] Other, findings include extra nipples, various birth defects such as a protrusion of the lining of the abdomen through the area around the belly button (umbilical hernia), and skeletal anomalies.[3][4] Some people with the condition have a mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including a rare type of kidney cancer (Wilms tumor) and cancer of the nerve tissue (neuroblastoma). SGBS can be caused by mutations in the GPC3 and GPC4 genes. Mutations in other genes have been studied, but have in most instances have only been described in one person or one family. In other cases, the cause is unknown.[3] SGBS is inherited in an X-linked manner.[5] Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

Last updated: 5/10/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Broad foot
Broad feet
Wide foot
[ more ] 		0001769
Coarse facial features
Coarse facial appearance
0000280
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Hepatomegaly
Enlarged liver
0002240
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Increased circulating IgE level 0003212
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] 		0000158
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Multicystic kidney dysplasia 0000003
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Short foot
Short feet
Small feet
[ more ] 		0001773
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Splenomegaly
Increased spleen size
0001744
Supernumerary nipple
Accessory nipple
0002558
Tall stature
Increased body height
0000098
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vertebral fusion
Spinal fusion
0002948
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
30%-79% of people have these symptoms
Abnormality of the helix 0011039
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] 		0010318
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Bundle branch block 0011710
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Finger syndactyly 0006101
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hydronephrosis 0000126
Hydroureter 0000072
Hypoglycemia
Low blood sugar
0001943
Inguinal hernia 0000023
Low-set, posteriorly rotated ears 0000368
Nail dysplasia
Atypical nail growth
0002164
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Omphalocele 0001539
Pectus excavatum
Funnel chest
0000767
Polyhydramnios
High levels of amniotic fluid
0001561
Prolonged QT interval 0001657
Scoliosis 0002650
Short 2nd finger
Short index finger
Short index fingers
[ more ] 		0009536
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Small nail
Small nails
0001792
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Umbilical hernia 0001537
Ureteral duplication
Double ureter
0000073
Webbed neck
Neck webbing
0000465
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ] 		0005616
Agenesis of corpus callosum 0001274
Cardiomyopathy
Disease of the heart muscle
0001638
Cleft upper lip
Harelip
0000204
Congenital diaphragmatic hernia 0000776
Congenital hip dislocation
Dislocated hip since birth
0001374
Dandy-Walker malformation 0001305
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Global developmental delay 0001263
Hepatoblastoma 0002884
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Hypoplasia of penis
Underdeveloped penis
0008736
Hypospadias 0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Muscular hypotonia
Low or weak muscle tone
0001252
Nephroblastoma 0002667
Neuroblastoma
Cancer of early nerve cells
0003006
Pancreatic islet-cell hyperplasia 0004510
Polysplenia
Multiple small spleens
0001748
Seizure 0001250
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Percent of people who have these symptoms is not available through HPO
Abnormal lung lobation 0002101
Broad palm
Broad hand
Broad hands
Wide palm
[ more ] 		0001169
Broad toe
Wide toe
0001837
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Narrow greater sciatic notch 0003375
Postaxial polydactyly 0100259
Posterior helix pit
Indentation in back of outer ear
0008523
Short greater sciatic notch 0003185
Short palm 0004279
Vertebral segmentation defect 0003422
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The spectrum of signs and symptoms associated with Simpson-Golabi-Behmel syndrome is very broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. As many as 50% of affected males die in the newborn period, although the causes of this high mortality remain unknown;[1] it has been suggested that it is probably related to cardiac abnornalities.[5] People with milder cases often live into adulthood.[3] Because of the varying degrees of manifestations and severity associated with the condition, prediction of prognosis and life expectancy most likely varies on an individual basis.
Last updated: 5/27/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis include overgrowth syndromes such as Beckwith-Wiedemann syndrome and Sotos syndrome, and additional disorders such as fragile X syndrome, Bannayan-Zonana syndrome, PTEN hamartoma tumor syndrome, Marshall syndrome, Nevo syndrome, mosaic trisomy 8 and Pallister-Killian syndrome (see these terms).
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Neri G, Gurrieri F, Zanni G, Lin A. Clinical and Molecular Aspects of the Simpson-Golabi-Behmel Syndrome. American Journal of Medical Genetics. 1998; 79(4):279-283. https://www.ncbi.nlm.nih.gov/pubmed/9781908.
  2. Tenorio J, Arias P, Martínez-Glez V, et al.. Simpson-Golabi-Behmel syndrome types I and II.. Orphanet Journal of Rare Diseases. 2014; 9(138):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254265/.
  3. Simpson-Golabi-Behmel syndrome. Genetics Home Reference. July 2017; http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome.
  4. Golabi M, Leung A, Lopez C. Simpson-Golabi-Behmel Syndrome Type 1. GeneReviews. June 23, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1219/.
  5. Garcia-Minaur S, Lapunzina Badia P, Martinez-Glen V, Nevado Blanco J, Santos Simarro F, Antonio Tenorio Castano J. Simpson-Golabi-Behmel syndrome. Orphanet. April 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373.