Sandifer Syndrome

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MESH via Orphanet 45 C537234 ICD10 via Orphanet 34 G24.8 UMLS via Orphanet 73 C0338465

Orphanet 59 ORPHA71272 UMLS 72 C0338465

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71272DefinitionSandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.EpidemiologyThe prevalence is unknown.Clinical descriptionOnset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. Episodes usually last for between 1-3 minutes and can occur up to 10 times a day, although they are usually associated with the ingestion of food. Vomiting, poor feeding, anaemia, epigastric discomfort, haematemesis and abnormal eye movements have also been reported. Reflux oesophagitis is common.EtiologyThe dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. Several studies have indicated that the dystonic posturing is a pathological reflex triggered in response to abdominal pain caused by gastroesophageal reflux and oesophagitis. Although conflicting results have been obtained, some authors have suggested that the dystonic posture provides relief from abdominal pain.Diagnostic methodsSandifer syndrome is diagnosed on the basis of the association of gastro-oesophageal reflux with the characteristic movement disorder. Neurological examination is usually normal.Differential diagnosisHowever, in the absence of clear indications of gastro-oesophageal reflux, misdiagnosis as infantile spasms, epilepsy or paroxysmal dystonia is common.Management and treatmentEarly diagnosis of the syndrome is essential, as effective treatment of the gastro-oesophageal reflux (by pharmacological therapy or surgical intervention) leads to resolution of the movement disorder.PrognosisThe prognosis for patients is good.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sandifer Syndrome, also known as sandifer's syndrome, is related to gastroesophageal reflux and torticollis, and has symptoms including torticollis Affiliated tissues include eye and breast, and related phenotypes are gastroesophageal reflux and torticollis

Wikipedia : ⁷⁵ Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by... more...

Search Clinical Trials , NIH Clinical Center for Sandifer Syndrome

Search GEO for disease gene expression data for Sandifer Syndrome.