A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability. [ ]

Synonyms: Weaver Syndrome WVS Weaver-Smith Syndrome

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Term information

Subsets

NCIT_C90259, NCIT_C165258, NCIT_C118467

ALT DEFINITION

An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly.

Contributing Source

Cellosaurus

NICHD

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Weaver Syndrome

Preferred Name

Weaver Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0265210

code

C125599

Term relations