MCID: MBS002
MIFTS: 57

Moebius Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Moebius Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 51Orphanet, 10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Moebius Syndrome:

Name: Moebius Syndrome 49 11 45 22 23 46 51
Mobius Syndrome 10 45 22 23 47 12 65 36
Congenital Facial Diplegia 45 23 46 51
Moebius Sequence 45 22 23
Moebius Congenital Oculofacial Paralysis 10 23
Oromandibular-Limb Hypogenesis Spectrum 10 24
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 45
Congenital Ophthalmoplegia and Facial Paresis 23
 
Congenital Facial Diplegia Syndrome 45
Congenital Oculofacial Paralysis 45
Mobius Ii Syndrome 65
Moebius Spectrum 23
Möbius Sequence 23
Möbius Syndrome 51
Mbs 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
moebius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal


External Ids:

OMIM49 157900
Disease Ontology10 DOID:13501
NCIt42 C84893
MeSH36 D020331
SNOMED-CT59 393607001, 89444000
Orphanet51 570
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D020331
UMLS via Orphanet66 C0221060

Summaries for Moebius Syndrome

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OMIM:49 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 myocardial infarction and acute myocardial infarction, and has symptoms including open mouth, mask-like facies and strabismus. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye, tongue and bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:23 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:45 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: 7/15/2013

NINDS:46 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.

Wikipedia:68 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 286)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction10.8
2acute myocardial infarction10.7
3breast cancer10.6
4möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.4
5hypogonadism10.3
6facial paralysis10.3
7hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.3MBS2, MBS3
8congenital nonprogressive myopathy with moebius and robin sequences10.3
9schizophrenia10.2
10leprosy10.2
11microcephaly10.2
12cerebral palsy10.2
13malignant hyperthermia10.2
14cerebritis10.2
15neuropathy10.2
16dwarfism10.2
17down syndrome10.2
18ischemia10.2
19rhabdomyosarcoma10.2
20prostate cancer10.1
21campomelic dysplasia10.1
22neuroectodermal tumor10.1
23prostatitis10.1
24hypotonia10.1
25good syndrome10.1
26exhibitionism10.1
27diabetes insipidus10.1
28dextrocardia10.1
29abducens nerve disease10.1
30basal ganglia calcification10.1
31hermaphroditism10.1
32sexual disorder10.1
33ventricular septal defect10.1
34charlie m syndrome10.1
35talipes equinovarus10.1
36wells syndrome10.1
37intellectual disability10.1
38barbiturate abuse10.1CHN1, FOXL2
39acute cor pulmonale10.1CHN1, TUBB3
40coronary heart disease 510.0
41c syndrome10.0
42facial paresis, hereditary congenital, 110.0
43adult syndrome10.0
44fanconi anemia, complementation group c10.0
45prader-willi syndrome10.0
46cardiac conduction defect10.0
47norrie disease10.0
48spinal and bulbar muscular atrophy of kennedy10.0
49image syndrome10.0
50child syndrome10.0

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



Diseases related to moebius syndrome

Symptoms for Moebius Syndrome

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Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Symptoms:

 51 (show all 43)
  • expressionless face/amimia
  • facial palsy
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • ptosis
  • mouth held open
  • abnormal cry/voice/phonation disorder/nasal speech
  • cranial nerves palsy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • corneal clouding/opacity/vascularisation
  • protruding lips
  • absent pectoral muscles
  • short hand/brachydactyly
  • talipes-varus/metatarsal varus
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • motor deficit/trouble
  • hypotonia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • visual loss/blindness/amblyopia
  • epicanthic folds
  • blepharitis/eyelid inflammation
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • hearing loss/hypoacusia/deafness
  • breast tissue/mammary gland absence/aplasia
  • arthrogryposis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • hand agenesis/absence
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • thumb hypoplasia/aplasia/absence
  • cafe-au-lait spot
  • late puberty/hypogonadism/hypogenitalism
  • autism/autistic disoders
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal dominant inheritance
  • death in infancy

HPO human phenotypes related to Moebius Syndrome:

(show all 85)
id Description Frequency HPO Source Accession
1 open mouth hallmark (90%) HP:0000194
2 mask-like facies hallmark (90%) HP:0000298
3 strabismus hallmark (90%) HP:0000486
4 ptosis hallmark (90%) HP:0000508
5 ophthalmoparesis hallmark (90%) HP:0000597
6 abnormality of the voice hallmark (90%) HP:0001608
7 micrognathia 64% HP:0000347
8 delayed speech and language development 55% HP:0000750
9 everted lower lip vermilion typical (50%) HP:0000232
10 brachydactyly syndrome typical (50%) HP:0001156
11 muscular hypotonia typical (50%) HP:0001252
12 talipes typical (50%) HP:0001883
13 opacification of the corneal stroma typical (50%) HP:0007759
14 feeding difficulties in infancy typical (50%) HP:0008872
15 aplasia of the pectoralis major muscle typical (50%) HP:0009751
16 hypertelorism 25% HP:0000316
17 bifid uvula 11% HP:0000193
18 cleft palate occasional (7.5%) HP:0000175
19 epicanthus occasional (7.5%) HP:0000286
20 micrognathia occasional (7.5%) HP:0000347
21 hearing impairment occasional (7.5%) HP:0000365
22 blepharitis occasional (7.5%) HP:0000498
23 visual impairment occasional (7.5%) HP:0000505
24 microdontia occasional (7.5%) HP:0000691
25 autism occasional (7.5%) HP:0000717
26 cafe-au-lait spot occasional (7.5%) HP:0000957
27 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
28 abnormality of the ulna occasional (7.5%) HP:0002997
29 skeletal muscle atrophy occasional (7.5%) HP:0003202
30 absent hand occasional (7.5%) HP:0004050
31 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
32 abnormality of the sense of smell occasional (7.5%) HP:0004408
33 finger syndactyly occasional (7.5%) HP:0006101
34 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
35 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
36 reduced number of teeth occasional (7.5%) HP:0009804
37 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
38 breast aplasia occasional (7.5%) HP:0100783
39 arthrogryposis multiplex congenita 6% HP:0002804
40 autosomal dominant inheritance HP:0000006
41 hypogonadotrophic hypogonadism HP:0000044
42 micropenis HP:0000054
43 high palate HP:0000218
44 epicanthus HP:0000286
45 mask-like facies HP:0000298
46 abnormality of the pinna HP:0000377
47 short neck HP:0000470
48 esotropia HP:0000565
49 microphthalmos HP:0000568
50 exotropia HP:0000577
51 abnormality of the posterior cranial fossa HP:0000932
52 brachydactyly syndrome HP:0001156
53 syndactyly HP:0001159
54 split hand HP:0001171
55 hand clenching HP:0001188
56 intellectual disability, mild HP:0001256
57 dysarthria HP:0001260
58 motor delay HP:0001270
59 gait disturbance HP:0001288
60 facial diplegia HP:0001349
61 congenital fibrosis of extraocular muscles HP:0001491
62 abnormality of the nail HP:0001597
63 abnormality of the voice HP:0001608
64 abnormality of the nasopharynx HP:0001739
65 talipes equinovarus HP:0001762
66 pes planus HP:0001763
67 dysphagia HP:0002015
68 dysdiadochokinesis HP:0002075
69 clumsiness HP:0002312
70 hypoplasia of the brainstem HP:0002365
71 poor coordination HP:0002370
72 abnormality of pelvic girdle bone morphology HP:0002644
73 respiratory difficulties HP:0002880
74 sporadic HP:0003745
75 phenotypic variability HP:0003812
76 depressed nasal bridge HP:0005280
77 aplasia/hypoplasia involving the metacarpal bones HP:0005914
78 decreased testicular size HP:0008734
79 feeding difficulties in infancy HP:0008872
80 infantile muscular hypotonia HP:0008947
81 radial deviation of finger HP:0009466
82 short phalanx of finger HP:0009803
83 lower limb undergrowth HP:0009816
84 camptodactyly HP:0012385
85 clinodactyly HP:0030084

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 Moebius Syndrome22 MBS3
2 Oromandibular-Limb Hypogenesis Spectrum24

Anatomical Context for Moebius Syndrome

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MalaCards organs/tissues related to Moebius Syndrome:

33
Eye, Tongue, Bone, Breast, Olfactory bulb, Skeletal muscle, Pituitary

Animal Models for Moebius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Moebius Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2CDX2, FGF9, PLXND1, SOX10, SOX9
2MP:00053828.4FGF9, GSX1, PLXND1, REV3L, SOX10, SOX9
3MP:00053847.6CDX2, CHN1, FGF9, FOXL2, NEUROG1, PLXND1
4MP:00053797.6CDX2, FGF9, FOXL2, GSX1, SOX10, SOX9
5MP:00053786.9CDX2, CHN1, FGF9, FOXL2, GSX1, PLXND1
6MP:00107685.9CDX2, FGF9, FOXL2, GSX1, NEUROG1, PLXND1

Publications for Moebius Syndrome

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Articles related to Moebius Syndrome:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Unmasking Moebius syndrome. (25785409)
2015
2
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. (25989267)
2015
3
Oral motor assessment in individuals with Moebius syndrome. (23930941)
2013
4
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (23683455)
2013
5
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. (23419067)
2013
6
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (24565196)
2013
7
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
8
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
9
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
10
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. (19882440)
2010
11
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
12
Oral implant rehabilitation in a patient with Moebius syndrome. (19300371)
2009
13
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
14
Moebius syndrome: clinical manifestations in a pediatric patient. (19722436)
2009
15
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. (17136552)
2007
16
A case of Moebius syndrome in association with Klinefelter syndrome. (12324877)
2002
17
Poland-Moebius syndrome: a case report. (11094187)
2000
18
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. (10389102)
1999
19
Moebius syndrome (moebius sequence). (23119569)
1999
20
Moebius syndrome: the new finding of hypertrophy of the coronoid process. (10388433)
1999
21
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc. (9695311)
1998
22
Moebius syndrome: report of case. (9096822)
1997
23
Physiological and perceptual features of dysarthria in Moebius syndrome: directions for treatment. (9689243)
1997
24
Association of atrial septal defect with Poland-Moebius syndrome: vascular disruption can be a common etiologic factor. A case report. (9071204)
1997
25
Moebius syndrome and central respiratory dysfunction. (9165516)
1997
26
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
27
Moebius syndrome: a review of the anaesthetic implications. (8839089)
1996
28
Moebius syndrome: continuous tachypnea verified by a polygraphic study. (8133977)
1993
29
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. (8503272)
1993
30
Successful strabismus surgery in a child with Moebius syndrome. (8239323)
1993
31
Comments on "Reply to 'Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"'". (1412052)
1992
32
Bell's palsy in Moebius syndrome. (1911524)
1991
33
Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology". (1741852)
1991
34
Moebius syndrome. (2319579)
1990
35
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. (2213851)
1990
36
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. (2618829)
1989
37
Autistic behaviour in Moebius syndrome. (2929356)
1989
38
Moebius' syndrome with unilateral cerebellar hypoplasia. (2810343)
1989
39
Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome. (6323150)
1983
40
Kinesiographic and electromyographic analysis of the masticatory muscles in Moebius' syndrome. (6964444)
1982
41
Moebius syndrome in a child and extremity defect in her father. (7160102)
1982
42
Speech, language and hearing in Moebius syndrome: a study of 22 patients. (208901)
1978
43
Moebius syndrome. (282146)
1978
44
Arson and Moebius' syndrome- a case study of stigmatization. (840000)
1977
45
Animation of facial palsy in Moebius syndrome by means of a circumoral sling: case report. (1070504)
1976
46
The Moebius syndrome: bilateral facial diplegia. A discourse on the symptoms, pathology, and a surgical dynamic animation of the paralyzed face. (975734)
1976
47
Moebius syndrome. (1056990)
1975
48
Moebius syndrome associated with the mother taking thalidomide during gestation. Case report. (4687573)
1973
49
Moebius syndrome. (A case report). (5023638)
1972
50
Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism. (5528546)
1970

Variations for Moebius Syndrome

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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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Pathways related to Moebius Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4NEUROG1, SOX10, SOX9

GO Terms for genes affiliated with Moebius Syndrome

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Cellular components related to Moebius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.0SOX14, SOX9, SRY

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mesenchymal cell proliferationGO:000205310.5FGF9, SOX9
2lacrimal gland developmentGO:003280810.4SOX10, SOX9
3morphogenesis of a branching epitheliumGO:006113810.4SOX10, SOX9
4oligodendrocyte differentiationGO:004870910.2SOX10, SOX9
5positive regulation of male gonad developmentGO:20000209.6SOX9, SRY
6male gonad developmentGO:00085849.4FGF9, SOX9, SRY
7male sex determinationGO:00302389.3FGF9, SOX9, SRY
8regulation of transcription from RNA polymerase II promoterGO:00063579.0CDX2, FOXL2, NEUROG1, SOX10, SOX9
9cell differentiationGO:00301549.0CDX2, FOXL2, SOX10, SOX9, SRY
10positive regulation of transcription, DNA-templatedGO:00458939.0CDX2, FOXL2, SOX10, SOX9, SRY
11transcription from RNA polymerase II promoterGO:00063668.3CDX2, FOXL2, GSX1, SOX10, SOX9
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.2CDX2, FGF9, FOXL2, SOX14, SOX9, SRY
13positive regulation of transcription from RNA polymerase II promoterGO:00459447.5FOXL2, GSX1, NEUROG1, PPP1R12A, SOX10, SOX9

Molecular functions related to Moebius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.8SOX10, SOX9, SRY
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009818.8FOXL2, SOX10, SOX14, SOX9, SRY
3chromatin bindingGO:00036828.7NEUROG1, SOX10, SOX14, SOX9
4transcription factor activity, sequence-specific DNA bindingGO:00037008.1CDX2, FOXL2, NEUROG1, SOX10, SOX9, SRY
5sequence-specific DNA bindingGO:00435658.0CDX2, FOXL2, GSX1, SOX14, SOX9
6DNA bindingGO:00036777.3CDX2, FOXL2, GSX1, NEUROG1, REV3L, SOX10

Sources for Moebius Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet