Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterized by the prenatal and postnatal overgrowth.
There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to be between 1:10,000 and 1:50,000 5.
- increased birth weight (between the 75th and 97th percentile) and length (above the 97th percentile) 5
- large head circumference at birth (usually above the 97th percentile) 5
- excessive growth in the first years of life
- craniofacial dysmorphisms such as dolichocephaly, prominent forehead, hypertelorism, epicanthic folds, flat nasal bridge, down-slanting palpebral fissures, high arched palate, the premature eruption of teeth and pointed chin 6
- intellectual disability and developmental delay
It is an autosomal dominant syndrome with the majority of cases being described as sporadic 5.
Increased bone age documentation is a pre-requisite to diagnosis as it is thought that all cases have an advanced bone age at some time 5.
Identifiable features include:
- ventricular abnormalities
- anomalies of midline structures
History and etymology
It was first described by Juan F. Sotos et al. in 1964 4.
For a large head: see causes of macrocephaly.
- 1. Ludwig S. Visual handbook of pediatrics and child health, the core. Philadelphia : Wolters Kluwer Health/Lippincott Williams & Wilkins, 2008. (2008) ISBN:0781795052. Read it at Google Books - Find it at Amazon
- 2. Schaefer GB, Bodensteiner JB, Buehler BA et-al. The neuroimaging findings in Sotos syndrome. Am. J. Med. Genet. 1997;68 (4): 462-5. Am. J. Med. Genet. (link) - Pubmed citation
- 3. Chen CP, Lin SP, Chang TY et-al. Perinatal imaging findings of inherited Sotos syndrome. Prenat. Diagn. 2002;22 (10): 887-92. doi:10.1002/pd.433 - Pubmed citation
- 4. SOTOS JF, DODGE PR, MUIRHEAD D et-al. CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. N. Engl. J. Med. 1964;271 (3): 109-16. doi:10.1056/NEJM196407162710301 - Pubmed citationet-al. CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. N. Engl. J. Med. 1964;271 (3): 109-16. doi:10.1056/NEJM196407162710301 - Pubmed citation
- 5. Melo DG, Acosta AX, Salles MA et-al. Sotos syndrome (cerebral gigantism): analysis of 8 cases. Arq Neuropsiquiatr. 2002;60 (2-A): 234-8. Pubmed citation
- 6. Cole TR, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J. Med. Genet. 1994;31 (1): 20-32. Free text at pubmed - Pubmed citation