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Emanuel syndrome

ORPHA96170
Synonym(s) Der(22)t(11;22) syndrome
Supernumerary der(22) syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q92.6
OMIM
UMLS
  • C1836929
MeSH
  • C535733
MedDRA -

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


Last update: February 2012

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