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Kosaki overgrowth syndrome

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

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

Presentation

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The features of this syndrome affect the face, skin, brain and the body.[citation needed]

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

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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.[citation needed]

Treatment

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History

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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

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  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
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