What is Sotos Syndrome ?
Sotos syndrome is a genetic disorder that is rare and is characterized by excessive physical growth before birth and after it. It is often referred to as ‘cerebral gigantism’.
Sotos syndrome is easily visible in children in the form of defects in facial features, abnormal growth of limbs, motor, social and cognitive delays and physiological and intellectual defects. Most of the children diagnosed with sotos syndrome grow up to be individuals with average physical growth and intellectual development.
Sotos Syndrome Symptoms
Some of the symptoms that may assist in the diagnosis of sotos syndrome are as follows.
Defects in facial feature:
- A large and conspicuous forehead
- Flushing of the face or a rosy coloring of the nose or cheeks
- Premature eruption of teeth and a softness of the enamel
- A striking, pointed chin
- Eye-folds that are down slanting in nature
- Crossed eyes
- A prominent and narrow jaw
- An enlarged head that is shaped like an inverted pear.
- The circumference of the head is larger than average
- A palate that is highly arched
- Disproportionately large hands and feet
- Delays in motor development
- Excessive physical growth in childhood
- Impaired fine motor control
- Clubbed feet or dislocated hips
- One is many times taller, has a greater height and larger heads than other children in similar age-range.
- Increased birth weight and length
- Development delays in language and speech
- Learning disabilities
- Jaundice in newborns
- Behavioral problems and disturbances
- Kidney defects or abnormalities
- Congenital heart abnormalities
- Conductive loss of hearing
- Greater vulnerability to developing certain kinds of tumors
- Abnormal EEG
- Thyroid disorders
- Bone age advances rapidly
- Nystagmus and strabismus
- Intolerance to Glucose
- Macrocrania without megalencephaly
- Chronic difficulties in feeding or reflux
- Delay in expressive language
- Autonomic dysfunction
- Visible hypertelorism
- Normal range I.Q.
- Characteristic and unusual structural changes in the brain
- Megacolon or constipation
- Persistent infection in the upper respiratory organs
Sotos Syndrome Pictures
Picture 1 : A large and conspicuous forehead in Sotos Syndrome pic
Image source : nature.com
Picture 2 : Sotos Syndrome photo
Image source : nature.com
Picture 3 : Sotos Syndrome showing long and Large head with “beaten-copper” skull in X Ray
Picture 4 : Sotos Syndrome photo
Image source : wikimedia.org
Sotos Syndrome Causes
- Sotos syndrome is caused by the mutation of the NSD1 gene. The NSD1 gene is responsible for making the protein that regulates the growth and development of a child.
- There is no empirical evidence to show that sotos syndrome runs in families. However certain families have had instances of more than one member to have developed the disorder.
Sotos Syndrome Treatment
- There is no known treatment for sotos syndrome. However, relevant medications can be used to treat the symptoms of sotos syndrome.
- Occupational and behavioral therapy may be used to teach skills to the patients as well as for behavior modification.