Orphanet: EAST syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

EAST syndrome

Disease definition

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).


Classification level: Disorder
  • Synonym(s):
    • Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
    • Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
    • SeSAME syndrome
    • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
    • Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 612780
  • UMLS: C2748572
  • MeSH: -
  • GARD: 10514
  • MedDRA: -

Detailed information


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.