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Weaver syndrome

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Uniprot Description A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand.
Mondo Term and Equivalent IDs
MONDO:0010193:  Weaver syndrome
GARD:0007878: 
MESH:C536687: 
NCIT:C125599: 
Orphanet:3447: 
SCTID:63119004: 
UMLS:C0265210: 
UMLS:CN036342: