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Disease Profile

Simpson-Golabi-Behmel syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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.

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.

Diagnosis

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.
    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
    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

      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

          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; https://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; https://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.

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