National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Sotos syndrome



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

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

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
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ]
0005616
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ]
0000457
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Feeding difficulties in infancy 0008872
Frontal bossing 0002007
Global developmental delay 0001263
High forehead 0000348
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Macrotia
Large ears
0000400
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
Muscular hypotonia
Low or weak muscle tone
0001252
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Tall stature
Increased body height
0000098
30%-79% of people have these symptoms
Abnormality of immune system physiology 0010978
Advanced eruption of teeth
Early eruption of teeth
0006288
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Aplasia/Hypoplasia of the corpus callosum 0007370
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Hypoglycemia
Low blood sugar
0001943
Obesity
Having too much body fat
0001513
Precocious puberty
Early onset of puberty
Early puberty
[ more ]
0000826
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ]
0001231
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Coarse facial features
Coarse facial appearance
0000280
Congenital hip dislocation
Dislocated hip since birth
0001374
Craniosynostosis 0001363
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
EEG abnormality 0002353
Genu valgum
Knock knees
0002857
Genu varum
Outward bow-leggedness
Outward bowing at knees
[ more ]
0002970
Hyperreflexia
Increased reflexes
0001347
Hypospadias 0000047
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Multiple renal cysts
Multiple kidney cysts
0005562
Neoplasm of the nervous system
Tumor of the nervous system
0004375
Patent ductus arteriosus 0001643
Renal duplication
Extra kidney
0000075
Sacrococcygeal teratoma 0030736
Scoliosis 0002650
Seizure 0001250
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Vesicoureteral reflux 0000076
Percent of people who have these symptoms is not available through HPO
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
Autosomal dominant inheritance 0000006
Cavum septum pellucidum 0002389
Enlarged cisterna magna 0002280
Expressive language delay 0002474
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
Hypermetropia
Farsightedness
Long-sightedness
[ more ]
0000540
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
0001388
Large hands
large hand
0001176
Long foot
Disproportionately large feet
large feet
long feet
[ more ]
0001833
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Nephroblastoma 0002667
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Otitis media
Middle ear infection
0000388
Partial agenesis of the corpus callosum 0001338
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ]
0000307
Poor coordination 0002370
Small nail
Small nails
0001792
Sporadic
No previous family history
0003745
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

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

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.

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


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. 

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


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.

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.

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



  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/.