Definition:
Weaver Syndrome otherwise known as the Weaver-Williams syndrome, is a congenital disorder which is usually linked to the unusual and rapid growth which may formally begin during the prenatal period. Its manifestation includes an unusual facial appearance and unusual skeletal features. It is a syndrome associated with the so called NSD1 (Douglas J, Hanks S, Temple IK, et al (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes". Am. J. Hum. Genet. 72 (1)). associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. The first syndrome was first described in 1974 by Weaver (Weaver DD, Graham CB, Thomas IT, Smith DW (1974). "A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly". J. Pediatr. 84 (4): 547-52).
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