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Emanuel syndrome

Orpha number	ORPHA96170
Synonym(s)	Der(22)t(11;22) syndrome Supernumerary der(22) syndrome
Prevalence	-
Inheritance	-
Age of onset	-

ICD-10	Q92.6
OMIM	609029
UMLS	C1836929
MeSH	C535733
MedDRA	-
SNOMED CT	-

Summary

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 parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.

Last update: February 2012

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Detailed information
Clinical genetics review	EN (2010)

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