Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene.
The features of this syndrome affect the face, skin, brain and the body.
Face:
Skin:
Brain:
Body:
The height, lower-segment, hand, and foot length are all greater than usual.
No inheritance pattern has been described as these mutations appear to have arisen de novo. This syndrome is due to mutations in a single copy of the PDGFRB gene.
This condition was first described in Japan in 2011 by Watanabe et al. These authors thought the condition was the Shprintzen-Goldberg syndrome but the patient lacked a mutation in the SKI gene. A second case was described by Takenouchi et al in 2015. These authors recognised that this condition was novel and on performing a whole genome sequencing found mutations in the PDGFRB gene. A further 24 cases were reported in 2017 by Gawliński et al.
Owlapps.net - since 2012 - Les chouettes applications du hibou