Emanuel syndrome
Definition:
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22.
References:
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[1]. Madan Gopal Choudhary, et al. Derivative 11;22 (emanuel) syndrome: a case report and a review. Case Rep Pediatr. 2013;2013:237935. [Content Brief]
[2]. Melissa T Carter, et al. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A. 2009 Aug;149A(8):1712-21. [Content Brief]
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