Wieacker-Wolff syndrome

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Classification according to ICD-10
G71.8 Other primary myopathies
ICD-10 online (WHO version 2019)

The Wieacker-Wolff syndrome is a very rare congenital disease with the main characteristics of intellectual disability , developmental delay and joint contractures . The syndrome is inherited X-chromosomally and thus has features of both arthrogryposis multiplex congenita and nonsyndromic X-linked mental retardation .

The first description comes from 1985 by the Freiburg gynecologist Peter Wieacker and the human geneticist Gerhard Wolff and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 30 people have been reported in 5 families. Inheritance is X-linked recessive . The female carriers are often without symptoms.

root cause

The disease are mutations in ZC4H2 - gene on the X chromosome locus q11.2 basis.

Clinical manifestations

Clinical criteria are:

  • Manifestation in the newborn period
  • Only the male gender is affected
  • severe joint contractures at birth
  • Muscle weakness with shortness of breath
  • Delayed motor development
  • mental disability

In addition, there may be ptosis , facial dysmorphism and skeletal abnormalities such as camptodactyly , hip dislocation , scoliosis , kyphosis , lordosis and clubfoot . In the female gender, the changes may be absent or less pronounced.

therapy

Treatment is only possible in a symptom-related and accompanying manner.

literature

  • ND Godfrey, S. Dowlatshahi, MM Martin, DM Rothkopf: Wieacker-Wolff syndrome with associated cleft palate in a female case. In: American journal of medical genetics. Part A. Volume 176, number 1, 01 2018, pp. 167–170, doi: 10.1002 / ajmg.a.38527 , PMID 29150902 .
  • DU Kloos, S. Jakubiczka, T. Wienker, G. Wolff, P. Wieacker: Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome. In: Human Genetics. Volume 100, Number 3-4, September 1997, pp. 426-430, doi: 10.1007 / s004390050528 , PMID 9272167 .

Individual evidence

  1. ↑ a b c intellectual disability-developmental retardation-contractures-syndrome. In: Orphanet (Rare Disease Database).
  2. ^ P. Wieacker, G. Wolff, TF Wienker, M. Sauer: A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. In: American journal of medical genetics. Volume 20, Number 4, April 1985, pp. 597-606, doi: 10.1002 / ajmg.1320200405 , PMID 4039531 .
  3. ^ Wieacker-Wolff syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links