Sandifer syndrome

Title

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Other Names:

Sandifer's syndrome

Categories:

Digestive Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 71272

Definition

Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.

Epidemiology

The prevalence is unknown.

Clinical description

Onset 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.

Etiology

The 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 methods

Sandifer syndrome is diagnosed on the basis of the association of gastro-oesophageal reflux with the characteristic movement disorder. Neurological examination is usually normal.

Differential diagnosis

However, in the absence of clear indications of gastro-oesophageal reflux, misdiagnosis as infantile spasms, epilepsy or paroxysmal dystonia is common.

Management and treatment

Early 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.

Prognosis

The prognosis for patients is good.

Visit the Orphanet disease page for more resources.

Last updated: 3/1/2007

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal head movements		0002457
Abnormal posturing		0002533
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Torticollis	Wry neck	0000473
30%-79% of people have these symptoms
Abnormal involuntary eye movements		0012547
Anemia	Low number of red blood cells or hemoglobin	0001903
Decreased cervical spine mobility	Limited neck movement	0004637
Epigastric pain		0410019
Esophagitis	Inflammation of the esophagus	0100633
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Hematemesis	Vomitting blood	0002248
Hiatus hernia	Stomach hernia	0002036
5%-29% of people have these symptoms
Episodic vomiting		0002572

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Last updated: 2/1/2021

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Sandifer syndrome. Click on the link to view a sample search on this topic.

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