MCID: SND005
MIFTS: 25

Sandifer Syndrome

Categories: Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sandifer Syndrome

MalaCards integrated aliases for Sandifer Syndrome:

Name: Sandifer Syndrome 53 59 72
Sandifer's Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
sandifer syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

MESH via Orphanet 45 C537234
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 73 C0338465
Orphanet 59 ORPHA71272
UMLS 72 C0338465

Summaries for Sandifer Syndrome

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...

Related Diseases for Sandifer Syndrome

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

(show all 30)
# 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 tracheoesophageal fistula with or without esophageal atresia 10.1
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 iron metabolism disease 10.0
27 food allergy 10.0
28 neuromuscular disease 10.0
29 seizure disorder 10.0
30 rare disease in surgical orthopedic 10.0

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



Diseases related to Sandifer Syndrome

Symptoms & Phenotypes for Sandifer Syndrome

Human phenotypes related to Sandifer Syndrome:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
2 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
3 abnormal head movements 59 32 hallmark (90%) Very frequent (99-80%) HP:0002457
4 abnormal posturing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002533
5 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
6 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
7 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
8 hematemesis 59 32 frequent (33%) Frequent (79-30%) HP:0002248
9 hiatus hernia 59 32 frequent (33%) Frequent (79-30%) HP:0002036
10 abnormal involuntary eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0012547
11 epigastric pain 59 32 frequent (33%) Frequent (79-30%) HP:0410019
12 decreased cervical spine mobility 59 32 frequent (33%) Frequent (79-30%) HP:0004637
13 episodic vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002572

UMLS symptoms related to Sandifer Syndrome:


torticollis

Drugs & Therapeutics for Sandifer Syndrome

Search Clinical Trials , NIH Clinical Center for Sandifer Syndrome

Genetic Tests for Sandifer Syndrome

Anatomical Context for Sandifer Syndrome

MalaCards organs/tissues related to Sandifer Syndrome:

41
Eye, Breast

Publications for Sandifer Syndrome

Articles related to Sandifer Syndrome:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Sandifer syndrome. 38
29517619 2018
2
First manifestation of citrullinemia type I as Sandifer syndrome. 38
30035404 2017
3
Intermittent head drops: the differential spectrum. 38
26085650 2016
4
[Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms]. 38
26697813 2016
5
Torticollis in children: an alert symptom not to be turned away. 38
26043711 2015
6
Treatment of Sandifer Syndrome with an Amino-Acid-Based Formula. 38
26199799 2015
7
Abnormal movements associated with oropharyngeal dysfunction in a child with Chiari I malformation. 38
25491728 2014
8
A case of congenital myopathy masquerading as paroxysmal dyskinesia. 38
25506169 2014
9
A 6-month-old boy with uncontrollable dystonic posture of the neck. Sandifer syndrome. 38
24549078 2014
10
YouTube as a source of information for children with paroxysmal episodes. 38
24158883 2013
11
Sandifer's Syndrome: a Misdiagnosed and Mysterious Disorder. 38
24910760 2013
12
"Nocturnal seizures" in idiopathic pulmonary arterial hypertension. 38
24127156 2013
13
[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood]. 38
23897137 2013
14
Torticollis. 38
23271760 2013
15
A chronic case of adult-onset Sandifer syndrome. 38
22411687 2013
16
Gastroesophageal reflux disease in neonates and infants : when and how to treat. 38
23322552 2013
17
A female adult with Sandifer's syndrome and hiatal hernia misdiagnosed as epilepsy with focal seizures. 38
22483645 2012
18
Movement disorder emergencies in childhood. 38
21835657 2011
19
["My child frequently twists his head...!" Sandifer syndrome - not just a rare occurrence]. 38
21744568 2011
20
Refractory head movements secondary to Sandifer syndrome treated with enteral feeding. 38
20589878 2010
21
[Feeding disorders, ALTE syndrome, Sandifer syndrome and gastroesophageal reflux disease in the course of food hypersensitivity in 8-month old infant]. 38
20712248 2010
22
A case of Sandifer's syndrome: significance in the differential diagnosis of growth retardation. 38
18416710 2008
23
Neuroanatomical basis of Sandifer's syndrome: a new vagal reflex? 38
18031943 2008
24
Abnormal head posture in a patient with normal ocular motility: Sandifer syndrome. 38
18286968 2008
25
Unusual symptom of intestinal malrotation: episodic cervical dystonia due to Sandifer syndrome. 38
17587280 2007
26
Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge. 38
17638161 2007
27
[The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux]. 38
17517207 2007
28
Gelastic seizures misdiagnosed as gastroesophageal reflux disease. 38
17475990 2007
29
Sandifer Syndrome: a continuing problem of misdiagnosis. 38
17168985 2006
30
Irritable oesophagus: a new cause of Sandifer's syndrome. 38
17062488 2006
31
Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. 38
16614981 2006
32
Torticollis in infants and children: common and unusual causes. 38
16958498 2006
33
Diagnosis and management of acute movement disorders. 38
16208529 2005
34
[Intramedullary neuroenteric cyst simulating Sandifer's syndrome]. 38
16922053 2005
35
Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. 38
15075069 2004
36
Paroxysmal nonepileptic events in children and adolescents. 38
12359819 2002
37
Episodic cervical dystonia associated with gastro-oesophageal reflux. A case of adult-onset Sandifer syndrome. 38
11714563 2001
38
A case of Sandifer's syndrome with hand tremor. 38
11765169 2001
39
Sandifer's syndrome in a child with asthma and cerebral palsy. 38
11147467 2000
40
Sandifer's syndrome in a breast-fed infant. 38
11012139 2000
41
[Torticollis as a cause of consultation in neuropediatrics]. 38
10584259 1999
42
Gastroesophageal reflux associated with dystonic movements: Sandifer's syndrome. 38
10365588 1999
43
Sandifer's syndrome and gastro-oesophageal reflux disease. 38
10400514 1999
44
Gastric emptying time and gastric electrical activity in a child with Sandifer's syndrome. 38
10426186 1999
45
[Motor paroxysmal disorders]. 38
10101774 1999
46
[Sandifer syndrome]. 38
9739197 1998
47
[Sandifer's syndrome: a rare form of torticollis in childhood. A report of a patient]. 38
9340617 1997
48
Sandifer's syndrome--a report of one case. 38
9133825 1997
49
Delayed gastric emptying in an infant with Sandifer syndrome. 38
9131397 1996
50
[Sandifer syndrome]. 38
10590615 1996

Variations for Sandifer Syndrome

Expression for Sandifer Syndrome

Search GEO for disease gene expression data for Sandifer Syndrome.

Pathways for Sandifer Syndrome

GO Terms for Sandifer Syndrome

Sources for Sandifer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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