Weaver syndrome, type 2

Weaver syndrome, type 2

An overgrowth syndrome (OMIM:614421) characterised by accelerated bone and growth maturation, unusual craniofacies (broad forehead and face), ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, hoarse, low-pitched cry, hypertonia with camptodactyly, and deep-set nails.

Molecular pathology
Caused byefects of EZH2, which encodes a polycomb group (PcG) protein that methylates Lys-9 and Lys-27 residues of histone H3, leading to transcriptional repression of target genes over successive cell generations.