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Disease Profile
Simpson-Golabi-Behmel syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q87.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SGBS1; Simpson dysmorphia syndrome; Bulldog syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Simpson-Golabi-Behmel
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
Symptoms
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.
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 |
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 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 |
0006101 | |||
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 | ||
Hydronephrosis | 0000126 | |||
Hydroureter | 0000072 | |||
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 | |||
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 |
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 |
0001274 | |||
Disease of the heart muscle
|
0001638 |
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.
|
Organizations
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
-
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: https://www.faces-cranio.org/ -
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: https://www.worldcf.org/
Learn more
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.
References
- 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.
- 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/.
- Simpson-Golabi-Behmel syndrome. Genetics Home Reference. July 2017; https://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome.
- Golabi M, Leung A, Lopez C. Simpson-Golabi-Behmel Syndrome Type 1. GeneReviews. June 23, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1219/.
- 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.
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