Sotos Syndrome

What is Sotos Syndrome?

Sotos Syndrome is also known as cerebral gigantism. It is a condition that occurs due to genetic reasons which leads to having physical overgrowth upon the first years of their life and having a head and facial appearance that are distinctive. The rapid physical overgrowth goes along with the delay of social, language, cognitive and motor development as well as the retardation of the mentality with ranges from mild to severe form.

Symptoms and Signs

  1. A person having been diagnosed with Sotos Syndrome will manifest the some of the following signs and symptoms:
  2. Juvenile glaucoma
  3. Poorly coordinated posture
  4. Visual deficit
  5. Juvenile onset open angle glaucoma
  6. Childhood glaucoma, myopia
  7. Cerebral gigantism
  8. Excess fluid on the brain
  9. Large head
  10. Secondary teeth
  11. Larger ventricular sizes
  12. Reduction of size of the corpus callosum
  13. Reduction of the size of the cerebellar vermis
  14. Large hands
  15. Protrusive forehead
  16. Long arms
  17. Clumsiness
  18. Awkward gait
  19. Irritability
  20. Delayed motor development
  21. Increase skull size
  22. Delayed social development
  23. Delayed cognitive development
  24. Mild mental retardation
  25. Speech impairment
  26. Down slanting eyes
  27. Tallness
  28. Large feet
  29. Hypertelorism
  30. Hypotonia
  31. Gum abscesses
  32. Unusually large body
  33. Delay in developmental milestones
  34. Epilepsy
  35. Advance teeth development
  36. Missing Teeth
  37. Weak Enamel
  38. Poor alignment of teeth
  39. Teeth discoloration
  40. Flat fingers
  41. Flat toenails
  42. Constipation
  43. Persistent low tone
  44. Jaundice
  45. Breathing difficulties
  46. Hypoglycemia
  47. Feeding difficulties
  48. Febrile convulsions
Sotos Syndrome pictures

Sotos Syndrome photos

Causes & Risk Factors

The main reason why Sotos syndrome is mainly due to:


It is an inherited disease condition that is due to NSD1 gene mutation. It is actually a dominant disorder that is autosomal. It is due to haploinsufficiency of NSD1 or what is known as nuclear receptor binding SET having domain protein 1. It is a gene that is necessary in encoding a coregulator of the nuclear receptors which will repress or activate the transcription. The problem with patients who are diagnosed with Sotos Syndrome is that there has been a defect in the NSD1 gene which is found in the chromosome number 5. However, there are also different kinds of chromosomal defects that could be associated with this disease condition like translocation and micro deletion between the chromosomes 8 and 5.

According to research conducted, around 80 to 90% of persons that are affected have been found with a positive deletion or mutation of NSD1. It has also been found out that most of the patients who suffer from this kind of disease condition are coming from the Japanese heritage and only 10% of the patients that are affected are coming from the non-Japanese heritage.

Risk Factors

When a person has this kind of genetic disorder, he or she will be at risk of transferring the gene which is mutated to his or her offspring. Aside from that, it is not yet widely understand but when a person has this kind of disorder, he or she will have a high risk of acquiring cancer.


In reality, there is no actual diagnosis prenatally done that may confirm that a baby has Sotos Syndrome. It is usually diagnosed months or years after his or her birth. There are actually no laboratory test conducted that may point out that a person has this kind of disease condition. However, the doctors, in order to confirm the diagnosis, will conduct certain actions like:

  1. Clinical examination where the physician will do a thorough physical examination.
  2. Medical history wherein the physician will ask certain pertinent questions to the patient’s primary caregiver.
  3. X-ray of the patient’s bone will determine if there are any lose developmental milestone.
  4. Chromosome analysis (karyotyping) will determine if the patient has a genetic disorder or syndrome which is known as fragile-X.


As of the moment, there is no current cure for the Sotos Syndrome. Treatment is aimed in symptomatic management. The symptomatic management or treatment is similar to person in the general population.

Occupational and physical therapy

It aids in the tone of the muscles, in the speech improvement therapy. It is done for patients or children having problems with their decreased motor skill functionality and fait problems.

Behavioral therapy

Assessment with regards to behavior aids with the problems regarding the patient’s behavior. It aims to correct learning disorders with the use of specialized exercises, activities and positive reinforcements.

  1. Medications such as Ritalin is prescribe for children experiencing anxiety, aggression and learning difficulties.
  2. Regular measurements are needed as well as regular dental and eye examination.
  3. Also, medical screening for the possibility of any congenital heart defects is needed.
  4. Ongoing surveillance is also needed to be able to prevent any medical problems that will further add to the disease condition.


Patients having this kind of diagnosis may have live a life of normal expectancy despite of the fact that it is a non life threatening disorder. The problems with the abnormalities found in patients with Sotos Syndrome will resolve as when the patient’s growth rate will reach the normal expected growth rate. The delays in the development may have improvement during their school age years. With regards to patients in their adult years, the growth delay and their intellect are within the expected normal range. Yet there might be problems regarding coordination which usually persist until the patient enters adulthood level.


Some complications that are associated with patient having Sotos Syndrome are as follows:

  1. Hypotonia
  2. Feeding Difficulties
  3. Facial Gestalt
  4. Scoliosis
  5. Febrile Seizures
  6. Pleural Effusion
  7. Kyphosis
  8. Oral complications
  9. Dental complications
  10. Lymphedema
  11. Visual problems
  12. Hearing problems
  13. Infections
  14. Loss of function
  15. Heart problems
  16. Kidney problems
  17. High blood pressure
  18. Lymphatic cancers
  19. Skin complications
  20. Chronic localized inflammation
  21. Plaques
  22. Nodules

25 thoughts on “Sotos Syndrome

  • 16/06/2012 at 9:16 PM

    I have a family history of Sotos Syndrome but none of my immediate family members developed it since my mom’s sister was born having the condition. My concern is what is the percentage of inheritance if a family history is present?

  • 11/09/2012 at 2:26 PM

    My son is 9 years old and he was diagnose as soto’s syndrome ,I would like to receive the latest prognosis of this syndrome

  • 26/11/2012 at 6:50 AM

    I have a little girl that is 6 yaers old now.We are foster family .We got her when she was 1 yr old and have been thought a lot I would like to no more.

  • 05/01/2013 at 12:15 PM

    My 13 yr old daughter has been diagnosed with this syndrome when she was a yr old. Recently she has been flapping or shaking her hands in school which has characteristics of ashbergers she has been on various medications for OCD but we feel they hinder her ability to learn. Today she is medication free but other issues seem to pop up. My question is could hormonal changes bring on other symptoms.? Or enhance symptoms that may have not been recognized before? She has been off meds for six months. Also, are their other syndromes that typically associate themselves or partner with Sotos?

  • 05/03/2013 at 2:17 AM

    Hi there

    I have got a son who is five years old and is been diagnosed with soto syndrome. I was really shocked to know about such a rare condition. I really hoping that he progresses well in his life and gain some independent life skills. Im really keen to know more about soto syndrome and how to deal with daily issues that arises. In addition, I want to know whether these kind of patient would talk in their future life.

  • 22/07/2013 at 10:46 AM

    Nice replies in return of this matter with genuine arguments and explaining everything concerning that.

  • 11/10/2013 at 5:28 AM

    My husband and daughter both have Sotos Syndrome. One thing that this article doesn’t say (or maybe it does and I just missed it) is that there is that the degree in which Sotos affects people is very vast. Cognitive development is one of those areas where there is a vast degree of severity between patients. Some people with Sotos struggle with it but some don’t as much. My husband has a college degree and a career but has a harder time with Hypoglycemia and upper repertory problems where our daughter suffers from nystagmus and hypotonia.

  • 01/11/2013 at 3:43 PM

    want to know more about soto syndrmn

  • 26/01/2014 at 9:23 AM

    My baby hv 2teeth uper n lower jaw. How can i treat her. Is it normal, n is there any need to remove her teeth as soon.

  • 31/12/2014 at 11:04 AM

    I have a 6 yr old son that is very smart (on the honor roll) but he is just not as fast or strong as his 5 yr old brother. He has almost no upper body strength at all and says the kids at school can climb buy he can’t.. He seems so floppy and at times he can barely hold his head up especially if he is laughing. He is constantly leaning on me and gets very tired easily. Sometimes we have to yell at him when hes standing right next to us because its like what we are saying is not registering or he has a delayed reaction time or somethkng and we have to repeat things to him. His arms literally feel like skin and bones, you can’t feel any muscle at all which is what prompted my call to the dr yday. I have always thought he was just not as athletic built but now that I have read about low muscle tone and all these different syndromes I’m beginning to think there is something underlying. This article about sotos is the closest thing I have seen that sounds the most like what I see with my son. The large head, being tall, excessive drooling, he wears glasses for a focusing problem. He has a horrible immune system and has been in the hospital several times becaus he gets so sick so sudden. I’m just really worried and was wondering if anyone else has seen these symptoms in their child or does it sound like it could be sotos?

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  • 08/09/2016 at 3:31 PM

    My daughter is 8 years old with sotos syndrome, what will be her future? i am worried about her.

    • 14/12/2016 at 5:51 AM

      Please do not worry about your daughter, my daughter was diagnosed when she was 3 months old she is. Now 37.
      She is 6’2″ tall Nd takes a size 14 shoe
      She has led a Wonderful life although she still lives at home with Mum and Dad, she can cope with just about everything in everyday life althoygh she does not work but I blame myself for that.
      Her consultant when she was born (DR Rosenbloom @ Alder Hey Children’s Hospital, Liverpool diagnosed Helen from 3 months and knew straight away what it was his words to me where ” if you treat your daughter like a handicapped child she will be, treat her as a normal child and she will blossom” I have , and she is, she has grown into (although very tall) a young woman whom every one loves, she is so pleasant and polite and will help anyone and do anything for everyone.
      Do not worry about your daughter just help her blossom.

      • 01/03/2017 at 3:19 AM

        Hi Hilary My son is 34 and has sotos I agree with you to let them blossom .we were told by a psycologist to put him in a home which we ignored it hasnt been easy but he is a son to be proud of.Its great to know theres someone older than him and doing so well.

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  • 01/04/2017 at 8:03 AM

    My son have Soto syndrome. I would like to know more about that. He is 12 years old, how can I help him?

    • 14/07/2017 at 5:20 AM

      I would say get him as much therapy as possible. My 7 month old baby girl was diagnosed at three months with Sotos. Treat him like a kid and don’t put any limitations on him.

  • 25/09/2017 at 10:49 PM

    I have a son with Soto syndrome. He was diagnosed his second year of kindergarten at that time they could not tell me what would be when he got older because this was a fairly new disease. He is now 29 years old and he has developed other signs. He has lymphedema severely and his legs but he’s a happy kid he’s worked for the same place for 11 years 2 days a week. He won’t ever be able to live by himself without someone coming in and cleaning and helping with basic daily life but by no means is he incapable of going to the store. Functions gross motor skills are still bad fine motor skills are as they were in kindergarten problems with button zippers but my son is smart as a whip give him anything verbally he remembers you can throw any written test out the window which is what the doctors told me when he was diagnosed and he’s a good kid

  • 11/10/2017 at 11:59 PM

    My son is suffering from sotos syndrome. He is 3 years old. He cant able to walk n stand on his own. Is any one who faced the same issue as i. How much time will he take to be on normal growth.

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  • 12/04/2018 at 12:46 PM

    My daughter was diagnosed with Soto’s at 7 months ,she is now 38 ,works 2 days a week and owns and drives her own car ,she has never had an accident and always extremely careful. She did have a hole in her heart which was repaired but the cardiologist said all her veins and arteries are scrambled like spaghetti and was unable to do a angiogram so has to be extremely careful if future surgery is needed .She has no real concept of money although she can count money but not able to work out change and no real value of money ,she has a wonderful memory and very observant .Her gross motor skills aren’t the best a size 14 in women’s shoes and large hands .i did do a lot of early intervention when very young and was advised to put her in a supported class but I put her through regular school and she completed year 12 .she is very well behaved but a bit of a loner and shy .


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