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Sandifer Syndrome

What Is It, Causes, Diagnosis, and More

Author:Maria Emfietzoglou, MD

Editors:Alyssa Haag,Emily Miao, PharmD,Kelsey LaFayette, DNP, RN, FNP-C

Illustrator:Jessica Reynolds, MS

Copyeditor:Sadia Zaman, MBBS, BSc


What is Sandifer syndrome?

Sandifer syndrome is a movement disorder characterized by paroxysmal dystonia (i.e., intermittent muscle contractions causing atypical and often painful movements) with severe opisthotonic, or backward, arching of the neck and back. This disorder is most commonly associated with gastroesophageal reflux and typically develops in individuals younger than two years of age. 

Infant arching neck and back.

Is Sandifer syndrome serious?

Sandifer syndrome is typically not serious and usually resolves within the first two years of life without any long-term complications. However, early diagnosis is essential to manage  associated conditions and treat Sandifer syndrome. 

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What causes Sandifer syndrome?

Sandifer syndrome most likely reflects a pain response to acidic reflux into the esophagus, and thus, it is commonly associated with gastroesophageal reflux, in which stomach acid flows back into the esophagus; and hiatal hernia, which refers to the protrusion of the stomach through a weak opening in the diaphragm that can ultimately lead to gastroesophageal reflux disease (GERD).

What are the signs and symptoms of Sandifer syndrome?

Signs and symptoms of Sandifer syndrome include abnormal posturing in which the individual’s head, neck and spine are severely arched posteriorly, while the limbs are spared. Posturing is typically brief, lasting for 2 to 3 minutes, and commonly occurs after feeding. The individual may also present with an alteration in mental status, such as confusion and decreased alertness. These episodes can occur up to ten times per day. Other symptoms associated with GERD vary depending on the severity; some individuals do not have any symptoms, while others may experience heartburn, persistent cough, wheezing, or stridor (i.e., noisy breathing due to obstructed air flow). As the disease progresses, the individual may have gastrointestinal bleeding and poor nutrition resulting in failure to thrive, or insufficient weight gain. 

How is Sandifer syndrome diagnosed?

Diagnosis is generally based on an individual’s medical history, as well as clinical presentation. Diagnosing Sandifer syndrome can often be challenging as the clinical presentation of individuals may be misleading, therefore, it is frequently underdiagnosed. Sandifer syndrome is typically mistaken for infantile spasm or epileptic seizure disorder. However, a normal neurologic examination, absence of seizure disorder, and the association of symptom onset with feeding should suggest Sandifer syndrome. A fecal occult blood test may also be useful to rule out gastrointestinal bleeding, while basic biochemistry panels, complete blood count, and urinalysis may be done to assess the individual’s nutritional status. If GERD is suspected, a 24-hour measurement of acidity reflux, upper gastrointestinal endoscopy, and intestinal biopsy are used to confirm the diagnosis. Upper gastrointestinal imaging may be used to diagnose hiatal hernia

How is Sandifer syndrome treated?

Treatment of Sandifer syndrome aims at relieving symptoms and involves modification of feeding habits and diet, as well as elevating the head during sleep to prevent acid reflux and relieve abdominal discomfort. If such modifications prove ineffective, medications may be used including acid suppressants, such as histamine receptor antagonists (e.g., famotidine) and proton pump inhibitors (e.g., omeprazole). In rare cases, surgery may be done to alleviate symptoms and can involve repairing the hiatus in the diaphragm or fundoplication. A fundoplication requires wrapping the fundus, which is the top part of the stomach, around the gastroesophageal junction, forming a new, tighter barrier between the esophagus and the stomach. 

What are the most important facts to know about Sandifer syndrome?

Sandifer syndrome refers to a condition involving paroxysmal dystonic movement with intermittent, tonic posture associated with feeding. The exact cause is currently unknown, yet several factors, like gastroesophageal reflux and a hiatal hernia, are common factors noticed in individuals with this syndrome. The diagnosis is mainly based on medical history and clinical presentation. Treatment relies on feeding modifications, positioning of the head, as well as acid suppressants and surgery to repair hiatal hernia and treat GERD, respectively. 

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Related links

Gastroesophageal reflux disease
GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review

Resources for research and reference

Baiu, I., & Lau, J. (2019). Paraesophageal hernia repair and fundoplication. JAMA, 322(24): 2450. DOI: 10.1001/jama.2019.17390

Pegeen, E. & Sheth, R. D (2020, April 10). Sandifer syndrome. In Medscape. Retrieved April 4, 2022, from https://emedicine.medscape.com/article/931761-overview

Sfara, A., & Dumitraşcu, D. (2019). The management of hiatal hernia: An update on diagnosis and treatment. Medicine and Pharmacy Reports, 92(4): 321-325. DOI: 10.15386/mpr-1323

U.S. Department of Health and Human Services. (2021, November 8). Sandifer syndrome. In Genetic and Rare Diseases Information Center. Retrieved April 4, 2022, from https://rarediseases.info.nih.gov/diseases/9684/disease