Sotos syndrome

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Disease Profile

Sotos syndrome

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.3

Inheritance

Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition.

95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent.

If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child.

If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.^[2]

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.

X-linked
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)

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

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 Sotos Syndrome Support Association P.O. Box 4626 Wheaton, IL 60189 Toll-free: 1-888-246-7772 E-mail: info@sotossyndrome.org Website: https://sotossyndrome.org/ Sotos Syndrome Support Association of Canada 1944 Dumfries Montreal Quebec Intl H3P 2R9 Canada E-mail: info@sssac.com Website: https://www.sssac.com Organizations Providing General Support American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200 Washington, DC 20001 Toll-free: (800) 424-3688 Telephone: (202) 387-1968 Fax: (202) 387-2193 Website: https://www.aaidd.org Child Growth Foundation United Kingdom Telephone: 020 8995 0257 E-mail: info@childgrowthfoundation.org Website: https://childgrowthfoundation.org/ The Arc of the United States 1825 K Street, NW Suite 1200 Washington, DC, DC 20006 Toll-free: 1-(800) 433-5255 Telephone: +1-202-534-3700 Fax: +1-202-534-3731 E-mail: info@thearc.org Website: https://www.thearc.org/ The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive McLean, VA 22101 Telephone: 703-556-9222 E-mail: info@sdbp.org Website: https://www.sdbp.org/index.cfm 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 Sotos syndrome. This website is maintained by the National Library of Medicine. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. 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 Sotos syndrome. Genetics Home Reference. February, 2015; https://ghr.nlm.nih.gov/condition/sotos-syndrome. Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman. Sotos Syndrome. GeneReviews. March 8, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1479/. Rare Psychiatry News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Psychiatry News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Psychiatry News. 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Rare Psychiatry News

Antenatal

Q87.3

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.

X-linked 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)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Organizations

Organizations Supporting this Disease

Organizations Providing General Support

Learn more

Where to Start

In-Depth Information

References

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.

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