MCID: MBS002
MIFTS: 44

Moebius Syndrome 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

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 open mouth, mask-like facies and strabismus. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, bone and tongue.

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.

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

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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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:

 64 54 (show all 81)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 open mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000194
2 mask-like facies64 54 hallmark (90%) Very frequent (99-80%) HP:0000298
3 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
4 ptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000508
5 ophthalmoparesis64 hallmark (90%) HP:0000597
6 abnormality of the voice64 54 hallmark (90%) Very frequent (99-80%) HP:0001608
7 micrognathia64 54 64% Occasional (29-5%) HP:0000347
8 delayed speech and language development64 55% HP:0000750
9 everted lower lip vermilion64 54 typical (50%) Frequent (79-30%) HP:0000232
10 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
11 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
12 talipes64 typical (50%) HP:0001883
13 opacification of the corneal stroma64 typical (50%) HP:0007759
14 feeding difficulties in infancy64 54 typical (50%) Very frequent (99-80%) HP:0008872
15 aplasia of the pectoralis major muscle64 54 typical (50%) Frequent (79-30%) HP:0009751
16 hypertelorism64 25% HP:0000316
17 bifid uvula64 11% HP:0000193
18 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
19 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
20 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
21 blepharitis64 54 occasional (7.5%) Occasional (29-5%) HP:0000498
22 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
23 microdontia64 54 occasional (7.5%) Occasional (29-5%) HP:0000691
24 autism64 54 occasional (7.5%) Occasional (29-5%) HP:0000717
25 cafe-au-lait spot64 occasional (7.5%) HP:0000957
26 arthrogryposis multiplex congenita64 54 occasional (7.5%) Occasional (29-5%) HP:0002804
27 abnormality of the ulna64 54 occasional (7.5%) Occasional (29-5%) HP:0002997
28 skeletal muscle atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0003202
29 absent hand64 54 occasional (7.5%) Occasional (29-5%) HP:0004050
30 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
31 abnormality of the sense of smell64 54 occasional (7.5%) Occasional (29-5%) HP:0004408
32 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
33 aplasia/hypoplasia of the radius64 54 occasional (7.5%) Occasional (29-5%) HP:0006501
34 aplasia/hypoplasia of the thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0009601
35 reduced number of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0009804
36 aplasia/hypoplasia of the tongue64 54 occasional (7.5%) Occasional (29-5%) HP:0010295
37 breast aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0100783
38 hypogonadotrophic hypogonadism64 54 Occasional (29-5%) HP:0000044
39 micropenis64 HP:0000054
40 high palate64 54 Occasional (29-5%) HP:0000218
41 abnormality of the pinna64 HP:0000377
42 short neck64 HP:0000470
43 esotropia64 HP:0000565
44 microphthalmia64 HP:0000568
45 exotropia64 HP:0000577
46 abnormality of the posterior cranial fossa64 HP:0000932
47 syndactyly64 HP:0001159
48 split hand64 HP:0001171
49 hand clenching64 HP:0001188
50 intellectual disability, mild64 HP:0001256
51 dysarthria64 HP:0001260
52 motor delay64 54 Frequent (79-30%) HP:0001270
53 gait disturbance64 HP:0001288
54 facial diplegia64 HP:0001349
55 congenital fibrosis of extraocular muscles64 HP:0001491
56 abnormality of the nail64 HP:0001597
57 abnormality of the nasopharynx64 HP:0001739
58 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
59 pes planus64 HP:0001763
60 dysphagia64 54 Frequent (79-30%) HP:0002015
61 dysdiadochokinesis64 HP:0002075
62 clumsiness64 HP:0002312
63 hypoplasia of the brainstem64 HP:0002365
64 poor coordination64 HP:0002370
65 abnormality of pelvic girdle bone morphology64 HP:0002644
66 respiratory difficulties64 HP:0002880
67 depressed nasal bridge64 HP:0005280
68 aplasia/hypoplasia involving the metacarpal bones64 54 Occasional (29-5%) HP:0005914
69 decreased testicular size64 HP:0008734
70 infantile muscular hypotonia64 HP:0008947
71 radial deviation of finger64 HP:0009466
72 short phalanx of finger64 HP:0009803
73 lower limb undergrowth64 HP:0009816
74 camptodactyly64 HP:0012385
75 clinodactyly64 HP:0030084
76 ophthalmoplegia54 Very frequent (99-80%)
77 death in infancy54 Occasional (29-5%)
78 cranial nerve paralysis54 Very frequent (99-80%)
79 multiple cafe-au-lait spots54 Occasional (29-5%)
80 corneal opacity54 Frequent (79-30%)
81 facial palsy54 Very frequent (99-80%)

UMLS symptoms related to Moebius Syndrome:


hyperacusis, facial paresis, palatal paresis, hyperexplexia

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

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 121)
idTitleAuthorsYear
1
Moebius syndrome: clinical features, diagnosis, management and early intervention. (27260152)
2016
2
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. (26921525)
2016
3
Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. (27729154)
2016
4
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. (26868039)
2016
5
Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome. (26942029)
2016
6
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT. (27276780)
2016
7
Caries Experience in Individuals with Moebius Syndrome. (26892218)
2016
8
Salivary parameters and oral health in the Moebius syndrome. (27061084)
2016
9
Unmasking Moebius syndrome. (25785409)
2015
10
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. (25989267)
2015
11
Examining the genetics of congenital facial paralysis-a closer look at Moebius syndrome. (25663568)
2015
12
Moebius syndrome and narcolepsy: A case dissertation. (26483899)
2014
13
People are all about appearances": A focus group of teenagers with Moebius Syndrome. (24423573)
2014
14
Mirror movements identified in patients with moebius syndrome. (25120946)
2014
15
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. (24612975)
2014
16
Moebius syndrome with Taussig-Bing anomaly. (24584392)
2014
17
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. (23419067)
2013
18
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (24565196)
2013
19
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
20
Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum. (24470815)
2013
21
Temporomandibular joint dysfunction in Moebius Syndrome. (24313581)
2013
22
Oral motor assessment in individuals with Moebius syndrome. (23930941)
2013
23
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (23683455)
2013
24
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
25
Moebius syndrome with baroreflex failure in an adolescent female. (27625823)
2012
26
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
27
Maternal homocystinuria and Moebius syndrome? Vascular aetiology. (22707369)
2011
28
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
29
New report of a familial case of Moebius syndrome presenting skeletal findings. (20635408)
2010
30
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. (19882440)
2010
31
People with Moebius syndrome show improved adjustment to facial disorder. (20853726)
2010
32
Living with moebius syndrome: adjustment, social competence, and satisfaction with life. (20210634)
2010
33
Congenital myotonic dystrophy associated with Moebius syndrome and double-outlet right ventricle. (20723129)
2010
34
Oromandibular limb hypogenesis syndrome with no oromandibular features, or Moebius syndrome without facial palsy? A diagnostic conundrum. (19305193)
2009
35
Moebius syndrome associated with hypoplastic left heart syndrome. (19634579)
2009
36
Soft tissue facial morphometry in subjects with Moebius syndrome. (20121933)
2009
37
Moebius syndrome with atrial septal defect. (19907896)
2009
38
Oral implant rehabilitation in a patient with Moebius syndrome. (19300371)
2009
39
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
40
Moebius syndrome: clinical manifestations in a pediatric patient. (19722436)
2009
41
Correction of neglected clubfoot deformity in children with Moebius syndrome. (19276995)
2009
42
Historical perspective: first description of the Moebius syndrome. (18306115)
2008
43
The faces of Moebius syndrome: recognition and anticipatory guidance. (18758328)
2008
44
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. (17136552)
2007
45
Self-inflicted oral trauma in a baby with Moebius syndrome. (18482519)
2007
46
Ectopic bone formation as a complication of surgical rehabilitation in patients with Moebius' syndrome. (17855104)
2007
47
Moebius syndrome: measures of observer intelligibility with versus without visual cues in bilateral facial paralysis. (17760482)
2007
48
Moebius syndrome with total anomalous pulmonary venous connection. (16741330)
2006
49
A report of paracentric inversion of chromosome 8 in Moebius syndrome. (16543199)
2006
50
Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome. (16053910)
2005

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:00424729.4FGF9, 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