Sotos syndrome

Title

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Other Names:

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

Categories:

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Rare Cancers See More

Summary 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]

Last updated: 5/27/2015

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.

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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		0009592
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Bilateral camptodactyly		0005617
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cholesteatoma		0009797
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Congenital posterior urethral valve		0010957
Craniosynostosis		0001363
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased fertility	Abnormal fertility	0000144
Hemangioma	Strawberry mark	0001028
Hip contracture		0003273
Hydrocele testis		0000034
Hydronephrosis		0000126
Hypercalcemia	High blood calcium levels Increased calcium in blood [ more ]	0003072
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Hypodontia	Failure of development of between one and six teeth	0000668
Hypopigmentation of the skin	Patchy lightened skin	0001010
Hypospadias		0000047
Hypothyroidism	Underactive thyroid	0000821
Inguinal hernia		0000023
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Neonatal hypoglycemia	Low blood sugar in newborn	0001998
Neuroblastoma	Cancer of early nerve cells	0003006
No permanent dentition	Absence of adult teeth Missing adult teeth [ more ]	0008498
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Pectus excavatum	Funnel chest	0000767
Phimosis		0001741
Pulmonary bleb		0032447
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Sacrococcygeal teratoma		0030736
Small cell lung carcinoma		0030357
Small nail	Small nails	0001792
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Umbilical hernia		0001537
Ureteral duplication	Double ureter	0000073
Ureteropelvic junction obstruction		0000074
Percent of people who have these symptoms is not available through HPO
Advanced eruption of teeth	Early eruption of teeth	0006288
Autosomal dominant inheritance		0000006
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Expressive language delay		0002474
Frontal bossing		0002007
Genu valgum	Knock knees	0002857
Glucose intolerance		0001952
High anterior hairline	High frontal hairline	0009890
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Hyperreflexia	Increased reflexes	0001347
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long foot	Disproportionately large feet large feet long feet [ more ]	0001833
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
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Nephroblastoma		0002667
Otitis media	Middle ear infection	0000388
Partial agenesis of the corpus callosum		0001338
Pointed chin	Pointy chin Small pointed chin Witch's chin [ more ]	0000307
Seizure		0001250
Sporadic	No previous family history	0003745

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Inheritance 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]

Last updated: 5/27/2015

Diagnosis 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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations 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: http://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: http://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: http://www.sdbp.org/index.cfm

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More 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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

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. Submit a new question

If my brother has the syndrome and there is no family history of any mental disabilities, is there a reason for me to get tested? Also, it confuses me as the mode of inheritance is said to be autosomal dominant. Is the implication that Sotos patients are having children? If there are other higher functioning people, I would understand. If it is truly autosomal dominant, by not having it, I would assume that I would not need to be tested. If I do not have it, it must mean that I am homozygous recessive? See answer

Have a question? Contact a GARD Information Specialist.

References References

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

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