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MCID: SND005
MIFTS: 25

Sandifer Syndrome

Categories: Gastrointestinal diseases, Neuronal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Sandifer Syndrome

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MalaCards integrated aliases for Sandifer Syndrome:

Name: Sandifer Syndrome 52 58 71
Sandifer's Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
sandifer syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 44 C537234
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C0338465
Orphanet 58 ORPHA71272
UMLS 71 C0338465
Sources

Summaries for Sandifer Syndrome

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NIH Rare Diseases : 52 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.

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

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Related Diseases for Sandifer Syndrome

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Diseases related to Sandifer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 gastroesophageal reflux 10.5
2 torticollis 10.5
3 hernia, hiatus 10.3
4 esophagitis 10.3
5 dystonia 10.3
6 cervical dystonia 10.2
7 iron metabolism disease 10.2
8 asthma 10.1
9 west syndrome 10.1
10 esophageal atresia 10.1
11 cerebral palsy 10.1
12 focal epilepsy 10.1
13 blepharospasm 10.1
14 hypertonia 10.1
15 tremor 10.1
16 paroxysmal dyskinesia 10.1
17 citrullinemia, classic 10.0
18 dermatitis, atopic 10.0
19 alacrima, achalasia, and mental retardation syndrome 10.0
20 deficiency anemia 10.0
21 iron deficiency anemia 10.0
22 visual epilepsy 10.0
23 allergic hypersensitivity disease 10.0
24 bell's palsy 10.0
25 peptic esophagitis 10.0
26 food allergy 10.0
27 neuromuscular disease 10.0
28 seizure disorder 10.0
29 rare disease in surgical orthopedic 10.0

Graphical network of the top 20 diseases related to Sandifer Syndrome:



Diseases related to Sandifer Syndrome
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Symptoms & Phenotypes for Sandifer Syndrome

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Human phenotypes related to Sandifer Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
2 torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000473
3 abnormal head movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0002457
4 abnormal posturing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002533
5 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
6 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
7 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
8 hematemesis 58 31 frequent (33%) Frequent (79-30%) HP:0002248
9 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
10 abnormal involuntary eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0012547
11 epigastric pain 58 31 frequent (33%) Frequent (79-30%) HP:0410019
12 decreased cervical spine mobility 58 31 frequent (33%) Frequent (79-30%) HP:0004637
13 episodic vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002572

UMLS symptoms related to Sandifer Syndrome:


torticollis
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Drugs & Therapeutics for Sandifer Syndrome

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Search Clinical Trials , NIH Clinical Center for Sandifer Syndrome

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Genetic Tests for Sandifer Syndrome

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Anatomical Context for Sandifer Syndrome

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MalaCards organs/tissues related to Sandifer Syndrome:

40
Eye, Breast
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Publications for Sandifer Syndrome

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Articles related to Sandifer Syndrome:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms. 61
31925500 2020
2
Sandifer syndrome. 61
29517619 2018
3
First manifestation of citrullinemia type I as Sandifer syndrome. 61
30035404 2017
4
Intermittent head drops: the differential spectrum. 61
26085650 2016
5
[Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms]. 61
26697813 2016
6
Torticollis in children: an alert symptom not to be turned away. 61
26043711 2015
7
Treatment of Sandifer Syndrome with an Amino-Acid-Based Formula. 61
26199799 2015
8
Abnormal movements associated with oropharyngeal dysfunction in a child with Chiari I malformation. 61
25491728 2014
9
A case of congenital myopathy masquerading as paroxysmal dyskinesia. 61
25506169 2014
10
A 6-month-old boy with uncontrollable dystonic posture of the neck. Sandifer syndrome. 61
24549078 2014
11
Sandifer's Syndrome: a Misdiagnosed and Mysterious Disorder. 61
24910760 2013
12
YouTube as a source of information for children with paroxysmal episodes. 61
24158883 2013
13
"Nocturnal seizures" in idiopathic pulmonary arterial hypertension. 61
24127156 2013
14
[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood]. 61
23897137 2013
15
A chronic case of adult-onset Sandifer syndrome. 61
22411687 2013
16
Torticollis. 61
23271760 2013
17
Gastroesophageal reflux disease in neonates and infants : when and how to treat. 61
23322552 2013
18
A female adult with Sandifer's syndrome and hiatal hernia misdiagnosed as epilepsy with focal seizures. 61
22483645 2012
19
Movement disorder emergencies in childhood. 61
21835657 2011
20
["My child frequently twists his head...!" Sandifer syndrome - not just a rare occurrence]. 61
21744568 2011
21
Refractory head movements secondary to Sandifer syndrome treated with enteral feeding. 61
20589878 2010
22
[Feeding disorders, ALTE syndrome, Sandifer syndrome and gastroesophageal reflux disease in the course of food hypersensitivity in 8-month old infant]. 61
20712248 2010
23
A case of Sandifer's syndrome: significance in the differential diagnosis of growth retardation. 61
18416710 2008
24
Neuroanatomical basis of Sandifer's syndrome: a new vagal reflex? 61
18031943 2008
25
Abnormal head posture in a patient with normal ocular motility: Sandifer syndrome. 61
18286968 2008
26
Unusual symptom of intestinal malrotation: episodic cervical dystonia due to Sandifer syndrome. 61
17587280 2007
27
Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge. 61
17638161 2007
28
[The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux]. 61
17517207 2007
29
Gelastic seizures misdiagnosed as gastroesophageal reflux disease. 61
17475990 2007
30
Sandifer Syndrome: a continuing problem of misdiagnosis. 61
17168985 2006
31
Irritable oesophagus: a new cause of Sandifer's syndrome. 61
17062488 2006
32
Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. 61
16614981 2006
33
Torticollis in infants and children: common and unusual causes. 61
16958498 2006
34
Diagnosis and management of acute movement disorders. 61
16208529 2005
35
[Intramedullary neuroenteric cyst simulating Sandifer's syndrome]. 61
16922053 2005
36
Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. 61
15075069 2004
37
Paroxysmal nonepileptic events in children and adolescents. 61
12359819 2002
38
Episodic cervical dystonia associated with gastro-oesophageal reflux. A case of adult-onset Sandifer syndrome. 61
11714563 2001
39
A case of Sandifer's syndrome with hand tremor. 61
11765169 2001
40
Sandifer's syndrome in a child with asthma and cerebral palsy. 61
11147467 2000
41
Sandifer's syndrome in a breast-fed infant. 61
11012139 2000
42
[Torticollis as a cause of consultation in neuropediatrics]. 61
10584259 1999
43
Sandifer's syndrome and gastro-oesophageal reflux disease. 61
10400514 1999
44
Gastroesophageal reflux associated with dystonic movements: Sandifer's syndrome. 61
10365588 1999
45
Gastric emptying time and gastric electrical activity in a child with Sandifer's syndrome. 61
10426186 1999
46
[Motor paroxysmal disorders]. 61
10101774 1999
47
[Sandifer syndrome]. 61
9739197 1998
48
[Sandifer's syndrome: a rare form of torticollis in childhood. A report of a patient]. 61
9340617 1997
49
Sandifer's syndrome--a report of one case. 61
9133825 1997
50
Delayed gastric emptying in an infant with Sandifer syndrome. 61
9131397 1996
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Variations for Sandifer Syndrome

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Expression for Sandifer Syndrome

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Search GEO for disease gene expression data for Sandifer Syndrome.
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Pathways for Sandifer Syndrome

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GO Terms for Sandifer Syndrome

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Sources for Sandifer Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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