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Emanuel syndrome

Disease definition

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.

ORPHA:96170

Classification level: Disorder
  • Synonym(s):
    • Der(22)t(11;22) syndrome
    • Supernumerary der(22) syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q92.6
  • ICD-11: LD41.Q
  • OMIM: 609029
  • UMLS: C1836929
  • MeSH: C535733
  • GARD: 9835
  • MedDRA: 10079203

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Greek (2012, pdf)

Detailed information

General public

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.