Weaver syndrome

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Weaver syndrome
Classification and external resources
ICD-10 Q87.3
OMIM 277590

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]

[edit] 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.