Kosaki tall stature syndrome

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Classification according to ICD-10
Q87.3 Congenital malformation syndromes with increased tissue growth in early childhood
ICD-10 online (WHO version 2019)

The Kosaki-overgrowth syndrome is a very rare congenital overgrowth syndrome with the main features of tall stature , facial dysmorphia , hyperextensibility the skin and leukoencephalopathy .

Synonyms are: skeletal tall stature-craniofacial dysmorphism-hyperelastic skin-lesions of the white matter syndrome; English Kosaki overgrowth syndrome; KOGS

The first description comes from the year 2011 by the Japanese orthopedic surgeon Kota Watanabe and coworkers, the delimitation as an independent clinical picture took place in the year 2015 by Toshiki Takenouchi and coworkers.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease are gain-of-function mutations in PDGFRB - gene on chromosome 5 locus q32 based on which a platelet derived growth factor coded.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in early childhood
  • Facial abnormalities with a prominent forehead, exophthalmos , sloping eyelids, wide bridge of the nose, thin upper lip and pointed chin
  • Tall with big hands and feet
  • Over-elastic and sensitive skin
  • progressive neurological abnormalities

literature

  • P. Gawliński, M. Pelc, E. Ciara, S. Jhangiani, E. Jurkiewicz, T. Gambin, A. Różdżyńska-Świątkowska, M. Dawidziuk, ZH Coban-Akdemir, DL Guilbride, D. Muzny, JR Lupski, M Krajewska-Walasek: Phenotype expansion and development in Kosaki overgrowth syndrome. In: Clinical genetics. Volume 93, Number 4, April 2018, pp. 919-924, doi: 10.1111 / cge.13192 , PMID 29226947 .
  • M. Minatogawa, T. Takenouchi, Y. Tsuyusaki, F. Iwasaki, T. Uehara, K. Kurosawa, K. Kosaki, CJ Curry: Expansion of the phenotype of Kosaki overgrowth syndrome. In: American journal of medical genetics. Part A. Volume 173, number 9, September 2017, pp. 2422-2427, doi: 10.1002 / ajmg.a.38310 , PMID 28639748 .
  • B. Kamien, A. Ronan et al. a .: A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. In: Molecular Syndromology. 9, 2018, p. 70, doi: 10.1159 / 000484532 .

Individual evidence

  1. ↑ a b c Skeletal tall stature-craniofacial dysmorphism-hyperelastic skin-lesions of the white matter syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ K. Watanabe, E. Okada, K. Kosaki, T. Tsuji, K. Ishii, M. Nakamura, K. Chiba, Y. Toyama, M. Matsumoto: Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. In: Journal of pediatric orthopedics. Volume 31, Number 2, March 2011, pp. 186-193, doi: 10.1097 / BPO.0b013e3182093da5 , PMID 21307714 .
  3. ↑ T. Takenouchi, Y. Yamaguchi, A. Tanikawa, R. Kosaki, H. Okano, K. Kosaki: Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. In: The Journal of pediatrics. Volume 166, Number 2, February 2015, pp. 483-486, doi: 10.1016 / j.jpeds.2014.10.015 , PMID 25454926 .
  4. ↑ Malacards
  5. ↑ Kosaki overgrowth syndrome.  In: Online Mendelian Inheritance in Man . (English)