Supernumerary der(22)t(11;22) syndrome (Q93122): Difference between revisions
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Síndrome de Emanuel é um transtorno genômico constitucional devido à presença de cromossomo supranumerário derivado do 22 e caracterizado por incapacidade intelectual grave, dismorfismo facial característico (micrognatia, pálpebras encapuzadas, fissuras parebrais inclinadas para cima, olhos fundos, columela pendente e filtro longo), defeitos cardíacos congênitos e anormalidades renais. | |||
| description / en | description / en | ||
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterised 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. | |||
Revision as of 08:14, 16 August 2026
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1821612421 |
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| English | Supernumerary der(22)t(11;22) syndrome |
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterised 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. |
