Bohring-Opitz syndrome

Definition:

Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:H01008], therefore known as C-like syndrome. Recently, It has been reported that de novo nonsense mutations in ASXL1 cause BOPS.

References:

[1]. Alexander Hoischen, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun 26;43(8):729-31. [Content Brief]

[2]. Axel Bohring, et al. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet A. 2006 Jun 15;140(12):1257-63. [Content Brief]

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