MCID: SND005
MIFTS: 24

Sandifer Syndrome

Categories: Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sandifer Syndrome

MalaCards integrated aliases for Sandifer Syndrome:

Name: Sandifer Syndrome 20 58 70
Sandifer's Syndrome 20

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 45 C537234
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 71 C0338465
Orphanet 58 ORPHA71272
UMLS 70 C0338465

Summaries for Sandifer Syndrome

GARD : 20 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.

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 related phenotypes are gastroesophageal reflux and torticollis

Wikipedia : 73 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 28)
# Related Disease Score Top Affiliating Genes
1 gastroesophageal reflux 10.4
2 torticollis 10.4
3 hernia, hiatus 10.2
4 esophagitis 10.2
5 dystonia 10.2
6 cervical dystonia 10.1
7 iron metabolism disease 10.1
8 west syndrome 9.9
9 esophageal atresia 9.9
10 epilepsy 9.9
11 cerebral palsy 9.9
12 focal epilepsy 9.9
13 blepharospasm 9.9
14 hypertonia 9.9
15 tremor 9.9
16 paroxysmal dyskinesia 9.9
17 citrullinemia, classic 9.9
18 ataxia and polyneuropathy, adult-onset 9.9
19 dermatitis, atopic 9.9
20 alacrima, achalasia, and mental retardation syndrome 9.9
21 deficiency anemia 9.9
22 iron deficiency anemia 9.9
23 allergic disease 9.9
24 bell's palsy 9.9
25 peptic esophagitis 9.9
26 food allergy 9.9
27 neuromuscular disease 9.9
28 seizure disorder 9.9

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:

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 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
6 hematemesis 58 31 frequent (33%) Frequent (79-30%) HP:0002248
7 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
10 decreased cervical spine mobility 58 31 frequent (33%) Frequent (79-30%) HP:0004637
11 epigastric pain 58 31 frequent (33%) Frequent (79-30%) HP:0410019
12 abnormal involuntary eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0012547
13 episodic vomiting 58 31 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:

40
Eye

Publications for Sandifer Syndrome

Articles related to Sandifer Syndrome:

(show top 50) (show all 80)
# Title Authors PMID Year
1
THE SPECTRUM OF UNDERLYING DISEASES IN CHILDREN WITH TORTICOLLIS. 61
33759163 2020
2
Paroxysmal head drops with ataxia-like symptoms presenting as Sandifer syndrome in a 3-year old girl. 61
32139446 2020
3
Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms. 61
31925500 2020
4
Sandifer syndrome. 61
29517619 2018
5
First manifestation of citrullinemia type I as Sandifer syndrome. 61
30035404 2017
6
Intermittent head drops: the differential spectrum. 61
26085650 2016
7
[Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms]. 61
26697813 2016
8
Torticollis in children: an alert symptom not to be turned away. 61
26043711 2015
9
Treatment of Sandifer Syndrome with an Amino-Acid-Based Formula. 61
26199799 2015
10
Abnormal movements associated with oropharyngeal dysfunction in a child with Chiari I malformation. 61
25491728 2014
11
A case of congenital myopathy masquerading as paroxysmal dyskinesia. 61
25506169 2014
12
A 6-month-old boy with uncontrollable dystonic posture of the neck. Sandifer syndrome. 61
24549078 2014
13
Sandifer's Syndrome: a Misdiagnosed and Mysterious Disorder. 61
24910760 2013
14
YouTube as a source of information for children with paroxysmal episodes. 61
24158883 2013
15
"Nocturnal seizures" in idiopathic pulmonary arterial hypertension. 61
24127156 2013
16
[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood]. 61
23897137 2013
17
Torticollis. 61
23271760 2013
18
A chronic case of adult-onset Sandifer syndrome. 61
22411687 2013
19
Gastroesophageal reflux disease in neonates and infants : when and how to treat. 61
23322552 2013
20
A female adult with Sandifer's syndrome and hiatal hernia misdiagnosed as epilepsy with focal seizures. 61
22483645 2012
21
Movement disorder emergencies in childhood. 61
21835657 2011
22
["My child frequently twists his head...!" Sandifer syndrome - not just a rare occurrence]. 61
21744568 2011
23
Refractory head movements secondary to Sandifer syndrome treated with enteral feeding. 61
20589878 2010
24
[Feeding disorders, ALTE syndrome, Sandifer syndrome and gastroesophageal reflux disease in the course of food hypersensitivity in 8-month old infant]. 61
20712248 2010
25
A case of Sandifer's syndrome: significance in the differential diagnosis of growth retardation. 61
18416710 2008
26
Abnormal head posture in a patient with normal ocular motility: Sandifer syndrome. 61
18286968 2008
27
Neuroanatomical basis of Sandifer's syndrome: a new vagal reflex? 61
18031943 2008
28
Unusual symptom of intestinal malrotation: episodic cervical dystonia due to Sandifer syndrome. 61
17587280 2007
29
Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge. 61
17638161 2007
30
Gelastic seizures misdiagnosed as gastroesophageal reflux disease. 61
17475990 2007
31
[The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux]. 61
17517207 2007
32
Sandifer Syndrome: a continuing problem of misdiagnosis. 61
17168985 2006
33
Irritable oesophagus: a new cause of Sandifer's syndrome. 61
17062488 2006
34
Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. 61
16614981 2006
35
Torticollis in infants and children: common and unusual causes. 61
16958498 2006
36
Diagnosis and management of acute movement disorders. 61
16208529 2005
37
[Intramedullary neuroenteric cyst simulating Sandifer's syndrome]. 61
16922053 2005
38
Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. 61
15075069 2004
39
Paroxysmal nonepileptic events in children and adolescents. 61
12359819 2002
40
Episodic cervical dystonia associated with gastro-oesophageal reflux. A case of adult-onset Sandifer syndrome. 61
11714563 2001
41
A case of Sandifer's syndrome with hand tremor. 61
11765169 2001
42
Sandifer's syndrome in a child with asthma and cerebral palsy. 61
11147467 2000
43
Sandifer's syndrome in a breast-fed infant. 61
11012139 2000
44
[Torticollis as a cause of consultation in neuropediatrics]. 61
10584259 1999
45
Sandifer's syndrome and gastro-oesophageal reflux disease. 61
10400514 1999
46
Gastroesophageal reflux associated with dystonic movements: Sandifer's syndrome. 61
10365588 1999
47
Gastric emptying time and gastric electrical activity in a child with Sandifer's syndrome. 61
10426186 1999
48
[Motor paroxysmal disorders]. 61
10101774 1999
49
[Sandifer syndrome]. 61
9739197 1998
50
[Sandifer's syndrome: a rare form of torticollis in childhood. A report of a patient]. 61
9340617 1997

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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