| A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum. |
