Richieri-Costa-Pereira syndrome

Definition:

Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.

References:

[1]. Francine P Favaro, et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am J Hum Genet. 2014 Jan 2;94(1):120-8. [Content Brief]

[2]. Gabriella S P Hsia, et al. Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Front Genet. 2018 Apr 25;9:149. [Content Brief]

[3]. Kelly N Evans, et al. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics. 2011 May;127(5):936-48. [Content Brief]

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