Advanced bone age may be present in 76 to 86% of the patients and is helpful but not specific. Brain abnormalities are present in 60 to 80% of patients, such as communicating hydrocephalous, and others, but are not diagnostic and are non-specific. [rarediseases.org]

By contrast, Patients 4 and 5 present a Sotos-like phenotype, recently proposed to be referred as Malan syndrome (5). [nature.com]

There was no similar presentation of this syndrome in his family and his parents were nonconsanguineous. Patient's family pedigree is shown in Figure 2. [journals.lww.com]

A clinical diagnosis of Sotos Syndrome may be gained by the presentation of the typical symptoms: Characteristic facial appearance Learning disability Childhood overgrowth Increased head circumference This suspected diagnosis can be confirmed through [childgrowthfoundation.org]

Presently, he is working at a day care centre for children. When re-examined together with his son, he had close to normal stature with macrocephaly and long extremities (table 1). [jmg.bmj.com]

• Multiple Congenital Anomalies

  Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. [malacards.org]

• Mild Cognitive Impairment

  The disorder is often accompanied by mild cognitive impairment; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. [malacards.org]

Treatment & Support Management of Sotos Syndrome is focussed on treatment of the individual symptoms as they occur overseen by an appropriate specialist. [childgrowthfoundation.org]

Standard Therapies Treatment The treatment of Sotos syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatments may include adaptations such as eating upright and elevating the head of the bed, medications and, in rare cases, surgery. Oral-motor treatment plan may be a part of the child's therapy program. [ojrd.biomedcentral.com]

Etiology Although most cases are sporadic, autosomal dominant inheritance has been reported in several cases [35, 36]. [ojrd.biomedcentral.com]

Epidemiology Sotos syndrome is probably one of the most common overgrowth conditions, after the Beckwith-Wiedemann syndrome. The exact birth prevalence remains unknown. Hundreds of cases are reported. [ojrd.biomedcentral.com]

Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. [medlineplus.gov]