Sotos syndrome

Classification according to ICD-10
Q87.3	Congenital malformation syndromes with increased tissue growth in early childhood - Sotos syndrome
ICD-10 online (WHO version 2019)

The Sotos syndrome was first in 1964 by the Spanish-American pediatrician Juan F. Sotos described (born 1927). Using the example of five children, he presented symptoms such as body growth accelerated from birth, bone age that is advanced in relation to age, macrocephalus (disproportionately large skull circumference) and a significant slowdown in motor, cognitive and linguistic development. Since then, more than 200 cases have occurred rare disease described in the medical literature. The Sotos syndrome is also known as cerebral gigantism and assigned to the tall stature syndromes .

causes

Changes in the NSD1 gene (nuclear receptor-binding SET domain protein 1) on chromosome 5 (5q35) are found in about 2/3 of all patients with Sotos syndrome . A deletion was found in a small number of European Sotos patients and a point mutation in the NSD1 gene was found in the majority of all Sotos patients. The inheritance of the disease is autosomal dominant . Point mutations in those affected usually occur de novo .

Symptoms

Patient with Sotos syndrome

The main features are above-average height from birth, accelerated growth (in the first five years of life), accelerated ossification (bone age is higher than chronological age), a large head (macrocephalus), a characteristic shape of the face (long face shape, hypertelorism ("Skull anomaly with increased distance between the eyes and the bridge of the nose"), wide and high forehead, pointed chin, high hairline, "slit eyes" ), high and pointed palate and early eruption of the teeth and a development delay.

A developmental delay is particularly evident in gross and fine motor skills as well as coordination and concentration. Despite a slowed down development, all development steps can be achieved, many of the characteristics decrease later. In addition to slowed psycho-mental development, there is a significant delay in speaking. The language understanding , however, compared to the ability of speaking, larger.

Studies of the cognitive abilities showed that the intelligence quotient in children with Sotos syndrome is very variable, a learning or intellectual disability can therefore not be described as characteristic of this syndrome, but does occur in some cases.

Possible difficulties can occur: seizures and febrile seizures in the neonatal period, neonatal jaundice, drinking and breathing problems in infancy due to suckling, infections (especially of the upper respiratory tract, middle ear infections ), congenital heart anomalies, scoliosis ( "Wachstumsdeformität the spinal column with fixed lateral bending" ), Arched arches , constipation, muscle hypotonia, which among other things leads to constipation, nystagmus ("eye tremors") and strabismus ("strabismus; misalignment of an eye"). In addition, puberty is premature.

The character of the children is generally described as affectionate, loving and distant-friendly. In the context of individual case reports, affected parents described some social-emotional difficulties, such as fits of anger and aggressive behavior at home, sleep problems, little knowledge of dangers, little social contact with other children or ritualistic-compulsive behavior. It can be assumed that caregivers tend to overestimate the children's abilities and social independence due to their accelerated growth. As a result, there is a risk of being overwhelmed and their behavior accordingly does not correspond to the expectations of those around them. This can lead to social insecurity and aggressive reactions in the child. However, the symptoms mentioned could also indicate autism as a comorbidity.

therapy

Sotos syndrome itself cannot be treated, but support measures are highly recommended. A parents' initiative mentions, for example, remedial early childhood education, physiotherapy, occupational therapy and speech therapy as possible support measures.

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

See also

• Malan's syndrome
• Marshall Smith Syndrome

literature

• Klaus Sarimski: Developmental Psychology of Genetic Syndromes. 3. Edition. Hogrefe Verlag, 2003.
• Gerhard Neuhäuser, Hans-Christoph Steinhausen : Intellectual disability - basics, clinical syndromes, treatment and rehabilitation. 3rd, revised and expanded edition. Kohlhammer, Stuttgart 2003.
• Pschyrembel - Clinical Dictionary. 259th edition. de Gruyter, Berlin 2002.
• G. Baujat, V. Cormier-Daire: Sotos syndrome. In: Orphanet J Rare Dis. 2, 7 Sep 2007, p. 36. PMID 17825104 , PMC 2018686 (free full text)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !