Wilson-Turner Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Wilson-Turner syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , gynecomastia and obesity .

Synonyms are: mental retardation, X-linked - gynecomastia - obesity; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome; English Mental Retardation, X-linked, Syndromic 6; MRXS6; Mental Retardation, X-linked, With Gynecomastia and Obesity.

The first description comes from the year 1991 by the Australian human geneticist Meredith Wilson, together with John Mulley, Agi Gedeon and colleagues.

distribution

The inheritance is X-linked . The frequency is given as less than 1 in 1,000,000, so far there have been reports on over 14 patients. The WTS is one of the very rare diseases .

root cause

The disease may have mutations in LAS1L - gene on the X chromosome locus q12 or HDAC8 gene to q13 based.

Clinical manifestations

Clinical criteria are:

  • Manifestation in childhood
  • mental retardation
  • Obesity
  • Gynecomastia
  • Language problems
  • Limb abnormalities with pointed fingers and small feet

diagnosis

The diagnosis is based on clinical findings and is confirmed by human genetic testing .

Differential diagnostics

The similar Börjeson-Forssman-Lehmann syndrome must be distinguished .

literature

  • A. Gedeon, J. Mulley, G. Turner: Gene localization for Wilson-Turner syndrome (WTS: MIM 309585) In: American journal of medical genetics. Vol. 64, No. 1, July 1996, pp. 80-81, doi : 10.1002 / (SICI) 1096-8628 (19960712) 64: 1 <80 :: AID-AJMG13> 3.0.CO; 2-O , PMID 8826454 .
  • DR Reed, Y. Ding, W. Xu, C. Cather, RA Price: Human obesity does not segregate with the chromosomal regions of Prader-Willi, Bardet-Biedl, Cohen, Borjeson or Wilson-Turner syndromes. In: International journal of obesity and related metabolic disorders: journal of the International Association for the Study of Obesity. Vol. 19, No. 9, September 1995, pp. 599-603, PMID 8574268 .

Individual evidence

  1. ↑ a b c d e Wilson-Turner syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ M. Wilson, J. Mulley, A. Gedeon, H. Robinson, G. Turner: New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. In: American journal of medical genetics. Vol. 40, No. 4, September 1991, pp. 406-413, doi: 10.1002 / ajmg.1320400405 , PMID 1746601 .
  3. ^ Wilson-Turner syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links