Emanuel syndrome

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Total: 2

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PMID (PMCID)
29666339	MIXED_SAMPLE	Infant
	Phenotypic characterization of derivative 22 syndrome: case series and review.
	Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. J Genet. 2018;97(1):205-211.
	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.
23691404 (3652044)	OTHER
	Derivative 11;22 (emanuel) syndrome: a case report and a review.
	Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS. Case Rep Pediatr. 2013;2013:237935.
	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.