Kosaki overgrowth syndrome

Kosaki overgrowth syndrome is a rare syndrome caused by mutations in the PDGFRB gene.[1]

Kosaki Overgrowth Syndrome
Kosaki overgrowth syndrome is inherited in an autosomal dominant manner.

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.

History

This condition was first described in Japan in 2011 by Watanabe et al.[2] 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.[3] 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.[4]

References
  1. "OMIM Entry - # 616592 - Kosaki Overgrowth Syndrome; KOGS". omim.org. Retrieved 11 February 2018.
  2. 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
  3. 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
  4. 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
Classification
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