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Sandifer syndrome

MedGen UID:
90922
•Concept ID:
C0338465
•
Disease or Syndrome
Synonym: Sandifer's syndrome
SNOMED CT: Sandifer syndrome (230314007); Sandifer's syndrome (230314007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019104
Orphanet: ORPHA71272

Definition

A paroxysmal dystonic movement disorder occurring in association with gastro-esophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterized by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-esophageal reflux but the pathophysiological mechanism is not clearly understood. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSandifer syndrome
Follow this link to review classifications for Sandifer syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.
Mindlina I
Eur J Pediatr 2020 Feb;179(2):243-250. Epub 2020 Jan 11 doi: 10.1007/s00431-019-03567-6. PMID: 31925500Free PMC Article

Recent clinical studies

Etiology

Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study.
Sullo F, Venti V, Catania R, Smilari P, Greco F, Pustorino E, Fiumara A, Raucci U, Falsaperla R, Marino S, Pavone P
Clin Neurol Neurosurg 2021 Aug;207:106739. Epub 2021 Jun 8 doi: 10.1016/j.clineuro.2021.106739. PMID: 34157509
The Spectrum of Underlying Diseases in Children with Torticollis.
Tumturk A, Gorkem SB, Ozmansur EN, Peduk Y, Arslan U, Gok V, Dogan H, Cetin BS, Sahin A, Gumus H, Guney A, Unal E, Kurtsoy A, Per H
Turk Neurosurg 2021;31(3):389-398. doi: 10.5137/1019-5149.JTN.31359-20.2. PMID: 33759163
Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.
Mindlina I
Eur J Pediatr 2020 Feb;179(2):243-250. Epub 2020 Jan 11 doi: 10.1007/s00431-019-03567-6. PMID: 31925500Free PMC Article
Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge.
Lehwald N, Krausch M, Franke C, Assmann B, Adam R, Knoefel WT
Eur J Pediatr Surg 2007 Jun;17(3):203-6. doi: 10.1055/s-2007-965145. PMID: 17638161
Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication.
Frankel EA, Shalaby TM, Orenstein SR
Dig Dis Sci 2006 Apr;51(4):635-40. doi: 10.1007/s10620-006-3184-1. PMID: 16614981

Diagnosis

The Spectrum of Underlying Diseases in Children with Torticollis.
Tumturk A, Gorkem SB, Ozmansur EN, Peduk Y, Arslan U, Gok V, Dogan H, Cetin BS, Sahin A, Gumus H, Guney A, Unal E, Kurtsoy A, Per H
Turk Neurosurg 2021;31(3):389-398. doi: 10.5137/1019-5149.JTN.31359-20.2. PMID: 33759163
Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.
Mindlina I
Eur J Pediatr 2020 Feb;179(2):243-250. Epub 2020 Jan 11 doi: 10.1007/s00431-019-03567-6. PMID: 31925500Free PMC Article
Sandifer syndrome.
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
Gastroesophageal reflux disease in neonates and infants : when and how to treat.
Czinn SJ, Blanchard S
Paediatr Drugs 2013 Feb;15(1):19-27. doi: 10.1007/s40272-012-0004-2. PMID: 23322552
Torticollis.
Tomczak KK, Rosman NP
J Child Neurol 2013 Mar;28(3):365-78. Epub 2012 Dec 26 doi: 10.1177/0883073812469294. PMID: 23271760

Therapy

Paroxysmal head drops with ataxia-like symptoms presenting as Sandifer syndrome in a 3-year old girl.
Sharif A, Carr L, Saliakellis E, Chakraborty H
BMJ Case Rep 2020 Mar 4;13(3) doi: 10.1136/bcr-2019-230989. PMID: 32139446Free PMC Article
Sandifer syndrome.
Moore DM, Rizzolo D
JAAPA 2018 Apr;31(4):18-22. doi: 10.1097/01.JAA.0000531044.72598.26. PMID: 29517619
"Nocturnal seizures" in idiopathic pulmonary arterial hypertension.
Izzo A, McSweeney J, Kulik T, Khatwa U, Kothare SV
J Clin Sleep Med 2013 Oct 15;9(10):1091-2. doi: 10.5664/jcsm.3094. PMID: 24127156Free PMC Article
Sandifer Syndrome: a continuing problem of misdiagnosis.
Kabakuş N, Kurt A
Pediatr Int 2006 Dec;48(6):622-5. doi: 10.1111/j.1442-200X.2006.02280.x. PMID: 17168985
Sandifer syndrome reconsidered.
Mandel H, Tirosh E, Berant M
Acta Paediatr Scand 1989 Sep;78(5):797-9. doi: 10.1111/j.1651-2227.1989.tb11150.x. PMID: 2596289

Prognosis

Torticollis.
Tomczak KK, Rosman NP
J Child Neurol 2013 Mar;28(3):365-78. Epub 2012 Dec 26 doi: 10.1177/0883073812469294. PMID: 23271760
Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge.
Lehwald N, Krausch M, Franke C, Assmann B, Adam R, Knoefel WT
Eur J Pediatr Surg 2007 Jun;17(3):203-6. doi: 10.1055/s-2007-965145. PMID: 17638161
Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication.
Frankel EA, Shalaby TM, Orenstein SR
Dig Dis Sci 2006 Apr;51(4):635-40. doi: 10.1007/s10620-006-3184-1. PMID: 16614981
Gastroesophageal reflux in children. Clinical profile, course and outcome with active therapy in 126 cases.
Shepherd RW, Wren J, Evans S, Lander M, Ong TH
Clin Pediatr (Phila) 1987 Feb;26(2):55-60. doi: 10.1177/000992288702600201. PMID: 3802692

Clinical prediction guides

Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study.
Sullo F, Venti V, Catania R, Smilari P, Greco F, Pustorino E, Fiumara A, Raucci U, Falsaperla R, Marino S, Pavone P
Clin Neurol Neurosurg 2021 Aug;207:106739. Epub 2021 Jun 8 doi: 10.1016/j.clineuro.2021.106739. PMID: 34157509
Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.
Mindlina I
Eur J Pediatr 2020 Feb;179(2):243-250. Epub 2020 Jan 11 doi: 10.1007/s00431-019-03567-6. PMID: 31925500Free PMC Article
Sandifer Syndrome: a continuing problem of misdiagnosis.
Kabakuş N, Kurt A
Pediatr Int 2006 Dec;48(6):622-5. doi: 10.1111/j.1442-200X.2006.02280.x. PMID: 17168985

Recent systematic reviews

A systematic review of Sandifer syndrome in children with severe gastroesophageal reflux.
Kato D, Uchida H, Amano H, Yokota K, Shirota C, Tainaka T, Sumida W, Makita S, Yasui A, Gohda Y, Maeda T, Hinoki A
Pediatr Surg Int 2024 Mar 25;40(1):91. doi: 10.1007/s00383-024-05683-3. PMID: 38526644Free PMC Article

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