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
- A person having been diagnosed with Sotos Syndrome will manifest the some of the following signs and symptoms:
- Juvenile glaucoma
- Poorly coordinated posture
- Visual deficit
- Juvenile onset open angle glaucoma
- Childhood glaucoma, myopia
- Cerebral gigantism
- Excess fluid on the brain
- Large head
- Secondary teeth
- Larger ventricular sizes
- Reduction of size of the corpus callosum
- Reduction of the size of the cerebellar vermis
- Large hands
- Protrusive forehead
- Long arms
- Awkward gait
- Delayed motor development
- Increase skull size
- Delayed social development
- Delayed cognitive development
- Mild mental retardation
- Speech impairment
- Down slanting eyes
- Large feet
- Gum abscesses
- Unusually large body
- Delay in developmental milestones
- Advance teeth development
- Missing Teeth
- Weak Enamel
- Poor alignment of teeth
- Teeth discoloration
- Flat fingers
- Flat toenails
- Persistent low tone
- Breathing difficulties
- Feeding difficulties
- Febrile convulsions
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.
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:
- Clinical examination where the physician will do a thorough physical examination.
- Medical history wherein the physician will ask certain pertinent questions to the patient’s primary caregiver.
- X-ray of the patient’s bone will determine if there are any lose developmental milestone.
- 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.
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.
- Medications such as Ritalin is prescribe for children experiencing anxiety, aggression and learning difficulties.
- Regular measurements are needed as well as regular dental and eye examination.
- Also, medical screening for the possibility of any congenital heart defects is needed.
- 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:
- Feeding Difficulties
- Facial Gestalt
- Febrile Seizures
- Pleural Effusion
- Oral complications
- Dental complications
- Visual problems
- Hearing problems
- Loss of function
- Heart problems
- Kidney problems
- High blood pressure
- Lymphatic cancers
- Skin complications
- Chronic localized inflammation