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:

Genetics

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.

Diagnosis

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.

Treatment

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.

Prognosis

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.

Complications

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


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9 Responses to “Sotos Syndrome”

  • Ara Vic says:

    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?

  • hayam ali saif says:

    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

  • kimberly johnson says:

    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.

  • Doug says:

    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?

  • Punam Karan says:

    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.

  • Kimberley says:

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

  • Jessie says:

    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.

  • Sraddha says:

    want to know more about soto syndrmn

  • Rinky says:

    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.


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