Sotos syndrome

The Sotos syndrome was first described in 1964 by Juan F. Sotos. Using the example of five children, he presented symptoms as a natural-born to accelerated body growth, the age compared with advanced bone age, a Makrocephalus ( disproportionately large skull circumference) and a significant slowing of motor, cognitive and language development dar. Since then, more than 200 cases in the medical literature. Sometimes the Sotos syndrome is also referred to as " cerebral gigantism ".

Causes

At about 2/3 of patients with Sotos syndrome, changes found in the NSD1 gene ( nuclear receptor binding, enhancer of zeste and trithorax domain protein) on chromosome 5 ( 5q35 ). For a small number of European Sotos patient was a deletion in the majority of Sotos patients, a point mutation in the NSD1 gene was found. The disease is autosomal dominant hereditary. Point mutations in affected occur in the rule de novo.

Symptoms

The main features are accelerated growth ( in the first five years of life ), an accelerated ossification ( bone age is higher than chronological age ), a Makrocephalus, a characteristic shape of the face [ long face shape, hypertelorism ( " skull anomaly with increased distance between the eyes and broadened nose " ), broad and high forehead, pointed chin, high forehead hairline, high and sharp palate and earlier eruption of teeth ] and a developmental delay.

A developmental delay is noted especially in the coarse and fine motor skills as well as with problems of coordination and concentration. Despite a slowdown in development, all development steps can be achieved, many of the features can be later after. To a slower, psychotic mental development is a significant delay of speech. Speech understanding, however, in comparison with the capability of crosstalk becomes larger.

Studies of cognitive abilities revealed that the intelligence quotient in children is highly variable with Sotos syndrome, a learning or intellectual disability is therefore not to refer to this syndrome as a characteristic, but can occur in some cases.

Possible problems that may occur: seizures and febrile seizures in the neonatal period, neonatal jaundice, drinking and breathing problems in infancy due to Saugschwierigkeiten, infections (especially upper respiratory, middle ear infections ), congenital heart anomalies, scoliosis ( " Wachstumsdeformität the spine with fixed lateral bending " ), kink - flat feet, constipation, nystagmus ( " nystagmus " ) and strabismus ( " crossed eyes; malposition of an eye "). In addition, the onset of puberty is premature due to the advanced bone age.

The character of the children is generally described as affectionate, loving and distanzlos - friendly. In the context of individual case reports, some social-emotional difficulties were described nevertheless concerned parents, such as temper tantrums and aggressive behavior at home, sleep problems, low knowledge of dangers, few social contacts with other children or even ritualistic compulsive behavior. It can be assumed that are slightly overestimated by the caregivers skills and social empowerment of children, their accelerated growth. This creates the danger of being overwhelmed and their behavior therefore does not meet the expectations of their environment. This can lead to social unrest and aggressive reactions in the child. However, these symptoms could also indicate autism as comorbidity.

Therapy

The Sotos syndrome itself is not treatable, promotion activities, however, are highly recommended. As possible support measures are called by a parents' initiative as physiotherapy, occupational therapy and speech therapy.

The life expectancy of children with Sotos syndrome is classified as normal.