Rare Hematology News

Disease Profile

Sotos 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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Antenatal

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.

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)

Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).[1]

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
Coarse facial features
Coarse facial appearance
0000280
Increased arm span
0012771
Tall stature
Increased body height
0000098
30%-79% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Brain imaging abnormality
0410263
Chronic otitis media
Chronic infections of the middle ear
0000389
Constipation
0002019
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Flushing
0031284
Global developmental delay
0001263
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Scoliosis
0002650
Sparse anterior scalp hair
Sparse scalp hair at front of head
Thin scalp hair at front of head

[ more ]

0004768
Tall chin
Increased height of chin
Long chin

[ more ]

0400000
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Anxiety
Excessive, persistent worry and fear
0000739
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942
Aplasia/Hypoplasia of the corpus callosum
0007370
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
Autistic behavior
0000729
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Cavum septum pellucidum
0002389
Cerebellar vermis hypoplasia
0001320
Cerebral atrophy
Degeneration of cerebrum
0002059
Dyscalculia
0002442
Enlarged cisterna magna
0002280
Focal impaired awareness seizure
0002384
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Generalized myoclonic seizure
0002123
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Kyphosis
Hunched back
Round back

[ more ]

0002808
Large hands
large hand
0001176
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Patent ductus arteriosus
0001643
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Poor coordination
0002370
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Tremor
0001337
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Ventriculomegaly
0002119
Vesicoureteral reflux
0000076
1%-4% of people have these symptoms
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Abnormal vertebral morphology
0003468
Acute lymphoblastic leukemia
0006721
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Ankle flexion contracture
0006466
Astrocytoma

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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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

      Organizations Providing General Support

        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

          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 Sotos syndrome. Click on the link to view a sample search on this topic.

            References

            1. Sotos syndrome. Genetics Home Reference. February, 2015; https://ghr.nlm.nih.gov/condition/sotos-syndrome.
            2. Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman. Sotos Syndrome. GeneReviews. March 8, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1479/.

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