Wieacker-Wolff syndrome

Definition

Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation. WRWF is caused by mutations in the ZC4H2 gene, that is involved in human brain development.

References:

[1]. Cristina Zanzottera, et al. ZC4H2 deletions can cause severe phenotype in female carriers. Am J Med Genet A. 2017 May;173(5):1358-1363. [Content Brief]

[2]. Hiromi Hirata, et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet. 2013 May 2;92(5):681-95. [Content Brief]

[3]. P Wieacker, et al. A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. Am J Med Genet. 1985 Apr;20(4):597-606. [Content Brief]

生物医学辞典

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