Children with a bone age of 2, 3 or even 4 years older than their chronological age, broad hands and feet, sucking problems and some cognitive, social and motor development problems.
These are the main features of Sotos syndrome, a medical condition of genetic origin. which is quite common in the population although little known.
People who suffer from it end up developing more or less normally, albeit late. Below we will learn more about this strange but at the same time common syndrome.
What is Sotos syndrome?
Sotos syndrome is a genetic medical condition characterized by excessive intrauterine or postnatal growth, accompanied by delayed motor, cognitive and social development. Children with this syndrome are significantly taller than expected at their age, but with a weight according to their height. In addition, babies exhibit excessive growth of bones, hands and feet and some facial features.
Unlike many genetic diseases, Sotos syndrome may not be obvious at birth, requiring months or even years to be properly diagnosed. With the approach of adolescence, people who suffer from it enter a development closer to normal, and in adulthood may have an intellectual, behavioral and motor capacity appropriate to their environment.
this syndrome received his name of Doctor Juan Sotos in 1964, specialist in pediatric endocrinology who described 5 children with learning disabilities, excessive proliferation and a characteristic appearance, for the first time calling it cerebral gigantism. However, not all the credit is due to Sotos, as Dr. Bernard Schelensinger described to a patient in 1931 the symptoms consistent with this syndrome, being the first known description of the syndrome.
Apparently it is one of the most common proliferation syndromes. Although the actual incidence has not been assessed, it is estimated that between 1 in 10,000 to 50,000 live births have this syndrome, although the best estimate is 1 in 14,000 births. Probably the second most common proliferation syndrome, after Beckwith Wiedemann syndrome
However, all the exact causes of the syndrome are unknown. it is clear that its origin is genetic, being an autosomal dominant inheritance.
In 2002, it was discovered that on chromosome 5, mutations and deletions in its NSD1 gene could be the cause of Sotos syndrome (deletion 5q35). This gene is a histone methyltransferase involved in transcriptional regulation. About at least 75% of Sotos cases have this genetic disorder.
Characteristics of the syndrome
There are several characteristics that define this syndrome. The main symptom is fairly rapid growth in the first 5 years of life, in addition to having advanced bone age.. Children have a height and weight depending on children 2 or 3 years older than them. By the age of 10, children with Sotos syndrome are 14 or 15 years old, reaching adult height much earlier than expected.
At the time of birth, it can be observed the presence of a very arched palateThis causes the baby to have difficulty breastfeeding and this leads to feeding problems which can lead to jaundice. Its head is generally large, showing macrocephaly, a prominent forehead and chin. They may also have dolichocephaly, which is an elongated skull. This is due to the exaggerated increase in brain tissue, which causes retention of cerebrospinal fluid in the ventricles.
The forehead is bulging and they may have ocular hypertelorism, which means the eyes are very far apart.. There are eyelid cracks, that is, folds are formed by tilting the eyelids downward. The nasal bridge is flat and the nose is anteverted. The cheeks and nose are red. The ears are detached and large, and the hairline is retroactive. Teeth develop prematurely, depending on their proliferation.
They have hands and feet that are disproportionate to the rest of the body, in addition to having flat or sagging feet. Your spine may have a tendency to suffer from deviations which, if chronic, will lead to scoliosis. All this is accompanied by muscle hypotonia, Resulting in engine delays and difficulty moving it also affects the face as the tone of the facial muscles is weak, producing prolonged drooling and they have to breathe through their mouths.
People with Sotos syndrome often exhibit images of restlessness, hyperactivity, and aggression. In addition, an intellectual disability can occur although in a very variable way, aggravated by difficulties of language development. Needless to say, the tongue issues are due to the arched arch of the palate. In any case, all these psychic characteristics make it difficult to integrate into different social environments.
Although the person may have problems in the first few years of life, the differences from people without the syndrome begin to narrow – reaching pre-adolescence. Muscle tone improves, making swallowing and speaking easier, as well as motor, cognitive and social delays are reduced to the point of disappearing in many cases. that’s why many see Sotos syndrome as a simple change in developmental timing rather than a type of disability.
There are other traits that are also linked to the syndrome, although they are less common. Among them are dysfunctional behavior patterns, phobias, obsessions, aggression and sticking to the routine. There are cases of children with high memory capacity and autistic behaviors, similar to Asperger’s, in addition to hyperactivity.
There appears to be an increased sensitivity to ear infections, respiratory problems such as asthma and allergies, as well as an increased risk of developing tumors and seizures. There may be delayed sphincter control and cardiac abnormalities, directly related to muscle hypotonia.
A key aspect in diagnosing Sotos syndrome is ensuring that an appropriate differential diagnosis is made, ensuring that it is not others with similar characteristics. Among the diseases that can be confused with this syndrome we have like Fragile X syndrome, Weaver syndrome and Marfan syndrome, very similar to Sotos but with more serious long term consequences.
There is no specific evidence for its diagnosis, which relies primarily on recognition of physical traits.. However, different tests can be used to confirm the diagnosis. X-rays can be used on the hand and wrist to determine bone maturity, detecting a 2-3 year lead. Computed tomography (CT) of the brain allows us to assess whether the ventricles are abnormally large.
Other tests, to rule out other possible causes of the clinical picture, are hormonal measurements and performing a karyotypeIn other words, a study of the patient’s chromosomes. If the alteration of the NSD1 gene is detected, it can be ascertained that it is a case of Sotos syndrome. It is currently not possible to make a diagnosis before birth.
Treatment of Sotos syndrome is aimed at make the social, cognitive and motor development of the child who suffers as close as possible to normal. Thus, many techniques are applied to facilitate the development of the child in a relatively normal way, such as early stimulation, occupational therapy, physiotherapy, speech therapy and physical education. In a structured environment, the child is able to practice the necessary skills without too many distractions.
as we have seen, these children may exhibit behavioral problems, such as restlessness, aggression and hyperactivity. This hinders their ability to concentrate and hinders learning, for this reason, and since the origin of these symptoms is biological, the pharmacological route is usually resorted to. Among the most commonly used drugs is methylphenidate hydrochloride, also used in ADHD.
- Lapunzina P (2010). Basement syndrome. Diagnostic and therapeutic protocols in pediatrics; 1: 71-9