Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene.
Presentation
The features of this syndrome affect the face, skin, brain and the body.
Face: downslanting palpebral fissures pointed chin prominent forehead proptosis thin upper lip wide nasal bridge
Skin: fragile hyperelastic
Brain: Low IQ Periventricular white matter lesions
Body:
The height, lower-segment, hand, and foot length are all greater than usual.
Genetics
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.
Treatment
History
This condition was first described in Japan in 2011 by Watanabe et al.Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba, K, Toyama Y, Matsumoto M (2011) Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. J Pediat Orthop 31: 186-193 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.Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki, K (2015) Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. J Pediat 166: 483-486 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.Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Akdemir ZHC, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M (2017) Phenotype expansion and development in Kosaki Overgrowth Syndrome. Clin Genet doi: 10.1111/cge.13192
References
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