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.
Clinical FeaturesTop most frequent phenotypes and symptoms related to Emanuel Syndrome
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Growth delay
- Failure to thrive
And another 82 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Emanuel Syndrome Is also known as der(22)t(11;22) syndrome, supernumerary der(22)t(11, supernumerary der(22) syndrome, 22) syndrome.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Sources and references
You can check the following sources for additional information.ORPHANET OMIM MESH Genetic Syndrome Finder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B UNCOMBABLE HAIR SYNDROME 1; UHS1