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Sotos syndrome

Disease Sore ThroatsSpace adaptation syndrome

NINDS Sotos Syndrome Information Page
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What is Sotos syndrome?
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development.

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considering the diagnosis of BWS, several other syndromes should also be considered (differential diagnosis). These include, but are not limited to, infant of a diabetic mother, Simpson-Golabi-Behmel syndrome, Perlman syndrome, Sotos syndrome, ...

Weaver syndrome see Sotos syndrome
Weil's disease see Meningitis
Werdnig-Hoffman disease see Spinal Muscular Atrophy
Wermer syndrome see Multiple Endocrine Neoplasia Type I
West Nile Encephalitis see Arboviral Encephalitides
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Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr. 2005 Dec;17(6):740-6. Review. PubMed citation
Enklaar T, Zabel BU, Prawitt D.

Examples of overgrowth syndromes include neurofibromatosis, Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Weaver syndrome, Proteus syndrome, Sturge-Weber syndrome and fragile X syndrome.

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Sotos syndrome (characterized by cerebral gigantism).
Simpson-Golabi-Behemel syndrome (characterized by macroglossia, macrosomia, renal and skeletal abnormalities, and increased risk of embryonal cancers).

(increased muscle tone) with camptodactyly (inability to fully extend the fingers). Caused by mutations in a gene called NSD1. The same gene is mutated in more than three-fourths of patients with another overgrowth disorder called Sotos syndrome.

See also: Cancer, Symptom, Kidney, Gigantism, Osteoporosis

Disease Sore ThroatsSpace adaptation syndrome

 
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