Knowra Sotos syndrome Sotos syndrome Sotos syndrome is a rare genetic overgrowth disorder associated with distinctive facial features, accelerated growth in childhood, and developmental delay. It is usually caused by changes affecting the NSD1 gene.
NSD1 : NSD1 is a gene that encodes a protein involved in regulating gene activity and development. Pathogenic variants or deletions affecting NSD1 account for most cases of Sotos syndrome.
Overgrowth : Overgrowth is unusually rapid or excessive physical growth relative to age and population norms. Accelerated growth, especially in childhood, is a defining feature of Sotos syndrome.
Clinical genetics : Clinical genetics applies genetic knowledge to diagnosis, counseling, and care for individuals and families. Genetic specialists interpret NSD1 testing and help coordinate syndrome-specific care.
Weaver syndrome : Weaver syndrome is a genetic overgrowth disorder commonly caused by pathogenic variants in EZH2. Its tall stature and advanced bone age can resemble Sotos syndrome, but its usual genetic cause differs.
Neurodevelopmental disorder : A neurodevelopmental disorder arises from atypical development of the nervous system and affects functioning over time. Sotos syndrome commonly affects learning, language, behavior, or motor development.
NSD1-related disorder : NSD1-related disorder is a group of conditions caused by pathogenic changes affecting the NSD1 gene. Sotos syndrome is the principal condition within this broader genetic category.
Developmental delay : Developmental delay describes a child’s slower-than-expected acquisition of skills in one or more developmental domains. Delays in motor, language, or cognitive development commonly accompany Sotos syndrome.
Genetic counseling : Genetic counseling helps individuals and families understand inherited conditions, testing, and reproductive implications. Counseling explains the usually de novo origin of Sotos syndrome and the small possibility of familial recurrence.
Beckwith-Wiedemann syndrome : Beckwith-Wiedemann syndrome is an overgrowth disorder associated with altered regulation of imprinted genes on chromosome 11p15. Both conditions involve childhood overgrowth, but Beckwith-Wiedemann syndrome has distinct features and tumor risks.
Advanced bone age : Advanced bone age means that skeletal maturation appears older than a person's chronological age. Bone age may be advanced in Sotos syndrome, especially during childhood.
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