MBS
MCID: MBS002
MIFTS: 53

Moebius Syndrome (MBS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
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Summaries for Moebius Syndrome

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NINDS:43 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.

MalaCards based summary: Moebius Syndrome, also known as congenital facial diplegia, is related to mobius syndrome and myocardial infarction, and has symptoms including expressionless face/amimia, facial palsy and strabismus/squint. An important gene associated with Moebius Syndrome is KIF21A (kinesin family member 21A), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Selected targets of Oct 3 4. Affiliated tissues include eye, tongue and bone, and related mouse phenotype mortality/aging.

NIH Rare Diseases:42 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

Genetics Home Reference:21 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:65 M more...

Description from OMIM:46 157900

Aliases & Classifications for Moebius Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 20GeneTests, 43NINDS, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Moebius Syndrome, Aliases & Descriptions:

Name: Moebius Syndrome 42 20 21 43 46 48
Congenital Facial Diplegia 42 21 43 48 62
Mobius Syndrome 42 21 62
Moebius Congenital Oculofacial Paralysis 21 62
Congenital Facial Diplegia Syndrome 42 62
Moebius Sequence 42 21
Moebius Spectrum 21 62
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 42
 
Fibrosis of Extraocular Muscles, Congenital, 1 62
Congenital Ophthalmoplegia and Facial Paresis 21
Paralysis, Oculofacial, Congenital 62
Congenital Oculofacial Paralysis 42
Möbius Sequence 21
Möbius Syndrome 48
Mbs 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
moebius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 157900
MESH via Orphanet35 D020331
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0221060

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 for Moebius Syndrome

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Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Symptoms:

48 (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 90)
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 facial palsy hallmark (90%) HP:0010628
8 micrognathia 64% HP:0000347
9 delayed speech and language development 55% HP:0000750
10 everted lower lip vermilion typical (50%) HP:0000232
11 brachydactyly syndrome typical (50%) HP:0001156
12 muscular hypotonia typical (50%) HP:0001252
13 talipes typical (50%) HP:0001883
14 opacification of the corneal stroma typical (50%) HP:0007759
15 feeding difficulties in infancy typical (50%) HP:0008872
16 aplasia of the pectoralis major muscle typical (50%) HP:0009751
17 abnormality of the teeth 37% HP:0000164
18 hypertelorism 25% HP:0000316
19 bifid uvula 11% HP:0000193
20 abnormality of the genital system occasional (7.5%) HP:0000078
21 cleft palate occasional (7.5%) HP:0000175
22 epicanthus occasional (7.5%) HP:0000286
23 micrognathia occasional (7.5%) HP:0000347
24 hearing impairment occasional (7.5%) HP:0000365
25 blepharitis occasional (7.5%) HP:0000498
26 visual impairment occasional (7.5%) HP:0000505
27 microdontia occasional (7.5%) HP:0000691
28 autism occasional (7.5%) HP:0000717
29 cafe-au-lait spot occasional (7.5%) HP:0000957
30 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
31 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
32 abnormality of the ulna occasional (7.5%) HP:0002997
33 amyotrophy occasional (7.5%) HP:0003202
34 absent hand occasional (7.5%) HP:0004050
35 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
36 abnormality of the sense of smell occasional (7.5%) HP:0004408
37 finger syndactyly occasional (7.5%) HP:0006101
38 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
39 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
40 reduced number of teeth occasional (7.5%) HP:0009804
41 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
42 breast aplasia occasional (7.5%) HP:0100783
43 arthrogryposis multiplex congenita 6% HP:0002804
44 autosomal dominant inheritance HP:0000006
45 hypogonadotrophic hypogonadism HP:0000044
46 micropenis HP:0000054
47 high palate HP:0000218
48 epicanthus HP:0000286
49 mask-like facies HP:0000298
50 short neck HP:0000470
51 esotropia HP:0000565
52 microphthalmos HP:0000568
53 exotropia HP:0000577
54 abnormality of the ear HP:0000598
55 abnormality of the posterior cranial fossa HP:0000932
56 syndactyly HP:0001159
57 split hand HP:0001171
58 hand clenching HP:0001188
59 hand clenching HP:0001188
60 intellectual disability, mild HP:0001256
61 dysarthria HP:0001260
62 motor delay HP:0001270
63 gait disturbance HP:0001288
64 facial diplegia HP:0001349
65 congenital fibrosis of extraocular muscles HP:0001491
66 abnormality of the nail HP:0001597
67 abnormality of the voice HP:0001608
68 abnormality of the nasopharynx HP:0001739
69 talipes equinovarus HP:0001762
70 pes planus HP:0001763
71 dysphagia HP:0002015
72 dysdiadochokinesis HP:0002075
73 clumsiness HP:0002312
74 hypoplasia of the brainstem HP:0002365
75 poor coordination HP:0002370
76 abnormality of pelvic girdle bone morphology HP:0002644
77 respiratory difficulties HP:0002880
78 sporadic HP:0003745
79 phenotypic variability HP:0003812
80 juvenile gastrointestinal polyposis HP:0004784
81 depressed nasal bridge HP:0005280
82 aplasia/hypoplasia involving the metacarpal bones HP:0005914
83 decreased testicular size HP:0008734
84 feeding difficulties in infancy HP:0008872
85 infantile muscular hypotonia HP:0008947
86 radial deviation of finger HP:0009466
87 short phalanx of finger HP:0009803
88 lower limb undergrowth HP:0009816
89 camptodactyly HP:0012385
90 clinodactyly HP:0030084

Drugs & Therapeutics for Moebius Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Moebius Syndrome

Genetic Tests for Moebius Syndrome

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Genetic tests related to Moebius Syndrome:

id Genetic test Affiliating Genes
1 Moebius Syndrome20 MBS3

Anatomical Context for Moebius Syndrome

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MalaCards organs/tissues related to Moebius Syndrome:

32
Eye, Tongue, Bone, Breast, Olfactory bulb, Pituitary, Heart

Animal Models for Moebius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Moebius Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7FGF9, CDX2, GSX1, NEUROG1, PPP1R12A

Publications for Moebius Syndrome

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Articles related to Moebius Syndrome:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Oral motor assessment in individuals with Moebius syndrome. (23930941)
2013
2
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (23683455)
2013
3
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. (23419067)
2013
4
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (24565196)
2013
5
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
6
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
7
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
8
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. (19882440)
2010
9
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
10
Oral implant rehabilitation in a patient with Moebius syndrome. (19300371)
2009
11
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
12
Moebius syndrome: clinical manifestations in a pediatric patient. (19722436)
2009
13
Correction of neglected clubfoot deformity in children with Moebius syndrome. (19276995)
2009
14
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. (17136552)
2007
15
A case of Moebius syndrome in association with Klinefelter syndrome. (12324877)
2002
16
Poland-Moebius syndrome: a case report. (11094187)
2000
17
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. (10389102)
1999
18
Moebius syndrome (moebius sequence). (23119569)
1999
19
Moebius syndrome: the new finding of hypertrophy of the coronoid process. (10388433)
1999
20
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc. (9695311)
1998
21
Moebius syndrome: report of case. (9096822)
1997
22
Physiological and perceptual features of dysarthria in Moebius syndrome: directions for treatment. (9689243)
1997
23
Association of atrial septal defect with Poland-Moebius syndrome: vascular disruption can be a common etiologic factor. A case report. (9071204)
1997
24
Moebius syndrome and central respiratory dysfunction. (9165516)
1997
25
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
26
Moebius syndrome: a review of the anaesthetic implications. (8839089)
1996
27
Moebius syndrome: continuous tachypnea verified by a polygraphic study. (8133977)
1993
28
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. (8503272)
1993
29
Successful strabismus surgery in a child with Moebius syndrome. (8239323)
1993
30
Comments on "Reply to 'Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"'". (1412052)
1992
31
Bell's palsy in Moebius syndrome. (1911524)
1991
32
Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology". (1741852)
1991
33
Moebius syndrome. (2319579)
1990
34
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. (2213851)
1990
35
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. (2618829)
1989
36
Autistic behaviour in Moebius syndrome. (2929356)
1989
37
Moebius' syndrome with unilateral cerebellar hypoplasia. (2810343)
1989
38
Anesthetic management of a patient with Moebius syndrome. (3977098)
1985
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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Clinvar genetic disease variations for Moebius Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1KIF21ANM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp)single nucleotide variantPathogenicrs121912585GRCh37Chr 12, 39726207: 39726207
2KIF21ANM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln)single nucleotide variantPathogenicrs121912586GRCh37Chr 12, 39726206: 39726206
3KIF21ANM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr)single nucleotide variantPathogenicrs121912587GRCh37Chr 12, 39726038: 39726038
4KIF21ANM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr)single nucleotide variantPathogenicrs121912588GRCh37Chr 12, 39752128: 39752128
5KIF21ANM_001173464.1(KIF21A): c.2839A> G (p.Met947Val)single nucleotide variantPathogenicrs121912589GRCh37Chr 12, 39726410: 39726410
6KIF21ANM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg)single nucleotide variantPathogenicrs121912590GRCh37Chr 12, 39726409: 39726409

Expression for genes affiliated with Moebius Syndrome

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Expression patterns in normal tissues for genes affiliated with Moebius Syndrome

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Pathways for genes affiliated with Moebius Syndrome

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Pathways related to Moebius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CDX2, NEUROG1
29.6CDX2, NEUROG1
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.5CDX2, PPP1R12A

Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.2FGF9, NEUROG1
2positive regulation of transcription from RNA polymerase II promoterGO:0459448.7GSX1, NEUROG1, PPP1R12A

Products for genes affiliated with Moebius Syndrome

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Sources for Moebius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet