Weaver syndrome

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Weaver syndrome
ICD-10 Q87.3
OMIM 277590

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Overview

Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974.[1]

It can be associated with NSD1.[2]

References

  1. 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. PMID 4366187.
  2. 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): 132–43. PMID 12464997.




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