MBS
MCID: MBS002
MIFTS: 47

Moebius Syndrome (MBS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Moebius Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Moebius Syndrome:

Name: Moebius Syndrome 52 48 24 25 49 54 12
Mobius Syndrome 11 48 24 25 50 39 13 68
Congenital Facial Diplegia 48 25 49 54
Moebius Sequence 48 24 25
Moebius Congenital Oculofacial Paralysis 11 25
Oromandibular-Limb Hypogenesis Spectrum 11 27
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 48
Congenital Ophthalmoplegia and Facial Paresis 25
 
Congenital Facial Diplegia Syndrome 48
Congenital Oculofacial Paralysis 48
Mobius Ii Syndrome 68
Moebius Spectrum 25
Möbius Sequence 25
Möbius Syndrome 54
Mbs 48

Characteristics:

Orphanet epidemiological data:

54
moebius syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal

HPO:

64
moebius syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Onset and clinical course: phenotypic variability
Mortality/Aging: death in infancy

Classifications:



External Ids:

OMIM52 157900
Disease Ontology11 DOID:13501
ICD1030 Q87.0
MeSH39 D020331
NCIt45 C84893
SNOMED-CT62 393607001, 89444000
Orphanet54 ORPHA570
ICD10 via Orphanet31 Q87.0
MESH via Orphanet40 D020331
UMLS via Orphanet69 C0221060

Summaries for Moebius Syndrome

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OMIM:52 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The... (157900) more...

MalaCards based summary: Moebius Syndrome, also known as mobius syndrome, is related to myopathy, congenital nonprogressive, with moebius sequence and robin sequence and moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome, and has symptoms including palatal weakness, palatal weakness and Array. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are cellular and mortality/aging.

NIH Rare Diseases:48 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. other cranial nerves may also be affected. there is no cure for moebius syndrome, but proper care and treatment give many individuals a normal life expectancy. last updated: 3/3/2016

NINDS:49 Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism.

Genetics Home Reference:25 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.

Wikipedia:71 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...

Related Diseases for Moebius Syndrome

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital nonprogressive, with moebius sequence and robin sequence12.0
2moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome11.8
3congenital nonprogressive myopathy with moebius and robin sequences11.6
4williams-beuren syndrome11.1
5facial paresis, hereditary congenital, 110.8
6hypoglossia-hypodactylia10.8
7potocki-lupski syndrome10.8
8chromosome 17q23.1-q23.2 deletion syndrome10.8
9chromosome 17q11.2 deletion syndrome, 1.4-mb10.8
10moebius axonal neuropathy hypogonadism10.8
11myocardial infarction10.3
12acute myocardial infarction10.2
13alopecia areata10.1PHOX2A, TUBB3
14oliver syndrome10.1REV3L, TUBB3
15breast cancer10.1
16amyotrophic neuralgia10.1PHOX2A, TUBB3
17total third-nerve palsy10.0PHOX2A, TUBB3
18urinary bladder villous adenoma10.0PHOX2A, TUBB3
19mental retardation, autosomal dominant 710.0PHOX2A, TUBB3
20lingual-facial-buccal dyskinesia10.0FOXL2, TUBB3
21hypogonadism10.0
22chronic lacrimal gland enlargement9.9PHOX2A, TUBB3
23facial paralysis9.9
24microcephaly9.8
25cerebral palsy9.8
26cerebritis9.8
27strabismus9.8
28neuronitis9.8
29malignant hyperthermia9.8
30neuropathy9.8
31dwarfism9.8
32pontocerebellar hypoplasia9.8FOXL2, PHOX2A, TUBB3
33intellectual disability9.8
34diabetes insipidus9.8
35schizophrenia9.7
36leprosy9.7
37campomelic dysplasia9.7
38down syndrome9.7
39ischemia9.7
40prader-willi syndrome9.7
41norrie disease9.7
42cerebellar hypoplasia9.7
43poland syndrome9.7
44holoprosencephaly9.7
45hypoplastic left heart syndrome9.7
46pulmonary edema9.7
47clubfoot9.7
48bell's palsy9.7
49kallmann syndrome9.7
50sleep disorder9.7

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



Diseases related to moebius syndrome

Symptoms & Phenotypes for Moebius Syndrome

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Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Human phenotypes related to Moebius Syndrome:

 54 64 (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism64 54 Occasional (29-5%) HP:0000044
2 cleft palate64 54 Occasional (29-5%) HP:0000175
3 open mouth64 54 Very frequent (99-80%) HP:0000194
4 high palate64 54 Occasional (29-5%) HP:0000218
5 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
6 epicanthus64 54 Occasional (29-5%) HP:0000286
7 mask-like facies64 54 Very frequent (99-80%) HP:0000298
8 micrognathia64 54 Occasional (29-5%) HP:0000347
9 hearing impairment64 54 Occasional (29-5%) HP:0000365
10 strabismus64 54 Very frequent (99-80%) HP:0000486
11 blepharitis64 54 Occasional (29-5%) HP:0000498
12 visual impairment64 54 Occasional (29-5%) HP:0000505
13 ptosis64 54 Very frequent (99-80%) HP:0000508
14 ophthalmoplegia64 54 Very frequent (99-80%) HP:0000602
15 microdontia64 54 Occasional (29-5%) HP:0000691
16 autism64 54 Occasional (29-5%) HP:0000717
17 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
18 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
19 motor delay64 54 Frequent (79-30%) HP:0001270
20 death in infancy54 Occasional (29-5%)
21 abnormality of the voice64 54 Very frequent (99-80%) HP:0001608
22 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
23 dysphagia64 54 Frequent (79-30%) HP:0002015
24 arthrogryposis multiplex congenita64 54 Occasional (29-5%) HP:0002804
25 abnormality of the ulna64 54 Occasional (29-5%) HP:0002997
26 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
27 absent hand64 54 Occasional (29-5%) HP:0004050
28 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
29 abnormality of the sense of smell64 54 Occasional (29-5%) HP:0004408
30 aplasia/hypoplasia involving the metacarpal bones64 54 Occasional (29-5%) HP:0005914
31 finger syndactyly64 54 Occasional (29-5%) HP:0006101
32 aplasia/hypoplasia of the radius64 54 Occasional (29-5%) HP:0006501
33 cranial nerve paralysis54 Very frequent (99-80%)
34 multiple cafe-au-lait spots64 54 Occasional (29-5%) HP:0007565
35 corneal opacity64 54 Frequent (79-30%) HP:0007957
36 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
37 aplasia/hypoplasia of the thumb64 54 Occasional (29-5%) HP:0009601
38 aplasia of the pectoralis major muscle64 54 Frequent (79-30%) HP:0009751
39 reduced number of teeth64 54 Occasional (29-5%) HP:0009804
40 aplasia/hypoplasia of the tongue64 54 Occasional (29-5%) HP:0010295
41 facial palsy64 54 Very frequent (99-80%) HP:0010628
42 breast aplasia64 54 Occasional (29-5%) HP:0100783
43 micropenis64 HP:0000054
44 abnormality of the teeth64 HP:0000164
45 bifid uvula64 HP:0000193
46 hypertelorism64 HP:0000316
47 abnormality of the pinna64 HP:0000377
48 short neck64 HP:0000470
49 esotropia64 HP:0000565
50 microphthalmia64 HP:0000568
51 exotropia64 HP:0000577
52 delayed speech and language development64 HP:0000750
53 abnormality of the posterior cranial fossa64 HP:0000932
54 syndactyly64 HP:0001159
55 split hand64 HP:0001171
56 hand clenching64 HP:0001188
57 intellectual disability, mild64 HP:0001256
58 dysarthria64 HP:0001260
59 gait disturbance64 HP:0001288
60 facial diplegia64 HP:0001349
61 congenital fibrosis of extraocular muscles64 HP:0001491
62 abnormality of the nail64 HP:0001597
63 abnormality of the nasopharynx64 HP:0001739
64 pes planus64 HP:0001763
65 dysdiadochokinesis64 HP:0002075
66 respiratory distress64 HP:0002098
67 clumsiness64 HP:0002312
68 hypoplasia of the brainstem64 HP:0002365
69 poor coordination64 HP:0002370
70 abnormality of pelvic girdle bone morphology64 HP:0002644
71 depressed nasal bridge64 HP:0005280
72 decreased testicular size64 HP:0008734
73 infantile muscular hypotonia64 HP:0008947
74 radial deviation of finger64 HP:0009466
75 short phalanx of finger64 HP:0009803
76 lower limb undergrowth64 HP:0009816
77 camptodactyly64 HP:0012385
78 clinodactyly64 HP:0030084

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.4CDX2, FGF9, NEUROG1, PHOX2A, PLXND1, REV3L
2MP:00107686.8CDX2, FGF9, FOXL2, NEUROG1, PHOX2A, PLXND1

Drugs & Therapeutics for Moebius Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Impairments of Oral Language in Mobius SyndromeCompletedNCT00856531
2Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
3Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersRecruitingNCT02055248
4Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated AnomaliesRecruitingNCT03059420

Search NIH Clinical Center for Moebius Syndrome


Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

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Genetic tests related to Moebius Syndrome:

id Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum27
2 Moebius Syndrome24 MBS3

Anatomical Context for Moebius Syndrome

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MalaCards organs/tissues related to Moebius Syndrome:

36
Eye, Bone, Tongue, Breast, Skeletal muscle, Pituitary, Heart

Publications for Moebius Syndrome

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Articles related to Moebius Syndrome:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Three Cases of Exotropic Moebius Syndrome. (28196268)
2017
2
Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome. (28409036)
2017
3
Rare place where I feel normal": Perceptions of a social support conference among parents of and people with Moebius syndrome. (28407536)
2017
4
A proposal for new neurorehabilitative intervention on Moebius Syndrome patients after 'smile surgery'. Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity. (28434583)
2017
5
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. (28299356)
2017
6
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. (26921525)
2016
7
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT. (27276780)
2016
8
Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome. (28478475)
2016
9
Moebius syndrome: clinical features, diagnosis, management and early intervention. (27260152)
2016
10
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. (26868039)
2016
11
Salivary parameters and oral health in the Moebius syndrome. (27061084)
2016
12
Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome. (26942029)
2016
13
Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. (27729154)
2016
14
Caries Experience in Individuals with Moebius Syndrome. (26892218)
2016
15
Unmasking Moebius syndrome. (25785409)
2015
16
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. (25989267)
2015
17
Examining the genetics of congenital facial paralysis-a closer look at Moebius syndrome. (25663568)
2015
18
People are all about appearances": A focus group of teenagers with Moebius Syndrome. (24423573)
2014
19
Moebius syndrome and narcolepsy: A case dissertation. (26483899)
2014
20
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. (24612975)
2014
21
Mirror movements identified in patients with moebius syndrome. (25120946)
2014
22
Moebius syndrome with Taussig-Bing anomaly. (24584392)
2014
23
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (24565196)
2013
24
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (23683455)
2013
25
Oral motor assessment in individuals with Moebius syndrome. (23930941)
2013
26
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
27
Temporomandibular joint dysfunction in Moebius Syndrome. (24313581)
2013
28
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. (23419067)
2013
29
Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum. (24470815)
2013
30
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
31
Moebius syndrome with baroreflex failure in an adolescent female. (27625823)
2012
32
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
33
Maternal homocystinuria and Moebius syndrome? Vascular aetiology. (22707369)
2011
34
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
35
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. (19882440)
2010
36
People with Moebius syndrome show improved adjustment to facial disorder. (20853726)
2010
37
Living with moebius syndrome: adjustment, social competence, and satisfaction with life. (20210634)
2010
38
Congenital myotonic dystrophy associated with Moebius syndrome and double-outlet right ventricle. (20723129)
2010
39
New report of a familial case of Moebius syndrome presenting skeletal findings. (20635408)
2010
40
Correction of neglected clubfoot deformity in children with Moebius syndrome. (19276995)
2009
41
Oromandibular limb hypogenesis syndrome with no oromandibular features, or Moebius syndrome without facial palsy? A diagnostic conundrum. (19305193)
2009
42
Moebius syndrome associated with hypoplastic left heart syndrome. (19634579)
2009
43
Moebius syndrome: clinical manifestations in a pediatric patient. (19722436)
2009
44
Moebius syndrome with atrial septal defect. (19907896)
2009
45
Oral implant rehabilitation in a patient with Moebius syndrome. (19300371)
2009
46
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. (19460469)
2009
47
Soft tissue facial morphometry in subjects with Moebius syndrome. (20121933)
2009
48
The faces of Moebius syndrome: recognition and anticipatory guidance. (18758328)
2008
49
Historical perspective: first description of the Moebius syndrome. (18306115)
2008
50
Moebius syndrome: measures of observer intelligibility with versus without visual cues in bilateral facial paralysis. (17760482)
2007

Variations for Moebius Syndrome

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Clinvar genetic disease variations for Moebius Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EBF3NM_ 001005463.2(EBF3): c.577A> G (p.Lys193Glu)SNVLikely pathogenicrs886040976GRCh38Chr 10, 129877827: 129877827

Expression for genes affiliated with Moebius Syndrome

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Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for genes affiliated with Moebius Syndrome

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GO Terms for genes affiliated with Moebius Syndrome

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Biological processes related to Moebius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:00424729.5FGF9, NEUROG1
2cell differentiationGO:00301548.8CDX2, FGF9, FOXL2, NEUROG1

Sources for Moebius Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet