CHOPS syndrome

Definition:

CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome. While CHOPS syndrome and Cornelia de Lange syndrome are clinically recognizable distinct entities there is some phenotypic overlap between these two diagnoses.

References:

[1]. Kosuke Izumi, et al. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 2015 Apr;47(4):338-44. [Content Brief]

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