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Sotos syndrome


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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


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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


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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.

Showing of 118 |
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
Showing of 118 |
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


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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


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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


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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


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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


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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


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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


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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


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


  1. Sotos syndrome. Genetics Home Reference. February, 2015; http://ghr.nlm.nih.gov/condition/sotos-syndrome.
  2. Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman. Sotos Syndrome. GeneReviews. March 8, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1479/.
Do you know of a review article? We want to hear from you.
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