Disease_Mapped_To_Gene Pediatric Endocrinology Terminology Weaver Syndrome Weaver-Smith Syndrome NICHD Disease or Syndrome C125599 Weaver Syndrome 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. WVS CCPS 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. C0265210 Cellosaurus Weaver Syndrome Cellosaurus Disease Terminology Childhood Cancer Predisposition Study Terminology CCPS Disease Terminology EZH2 Gene Syndrome Rare Non-Neoplastic Disorder NSD1 Gene NICHD Terminology