Emanuel syndrome

MONDO:0012176

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.

Also known as: Der(22)t(11;22) syndrome, Emanuel syndrome, supernumerary der(22) syndrome, Ehlers-Danlos syndrome, classic-like, 1, supernumerary Der(22)T(11, supernumerary der(22),t(11;22) syndrome

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↑ Hereditary disease (18187)

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