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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21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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: Moebius Syndrome, also known as congenital facial diplegia, is related to mobius syndrome and myocardial infarction, and has symptoms including hand agenesis/absence, metacarpal anomalies/archibald's sign and cafe-au-lait spot. An important gene associated with Moebius Syndrome is MBS3 (Moebius syndrome 3), and among its related pathways are Selected targets of Oct 3 4 and Transcriptional Regulatory Network in Embryonic Stem Cell. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and bone, and related mouse phenotype mortality/aging.

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.

NIH Rare Diseases:43 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

Wikipedia:65 M more...

Description from OMIM:47 157900

Aliases & Classifications for Moebius Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 20GeneTests, 44NINDS, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
moebius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

moebius syndrome 43 20 21 44 47 49
congenital facial diplegia 43 21 44 49
mobius syndrome 43 21 62
moebius sequence 43 21
absence or underdevelopment of the 6th and 7th cranial nerves 43
fibrosis of extraocular muscles, congenital, 1 62
congenital ophthalmoplegia and facial paresis 21
moebius congenital oculofacial paralysis 21
congenital facial diplegia syndrome 43
congenital oculofacial paralysis 43
möbius sequence 21
moebius spectrum 21
möbius syndrome 49
mbs 43


External Ids:

OMIM47 157900
MESH via Orphanet36 D020331
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0221060

Related Diseases for Moebius Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Symptoms:

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

Drugs & Therapeutics for Moebius Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Moebius Syndrome

Search NIH Clinical Center for Moebius Syndrome

Genetic Tests for Moebius Syndrome

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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Moebius Syndrome:

33
Eye, Tongue, Bone, Olfactory bulb, Breast, Pituitary, Heart

Animal Models for Moebius Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Moebius Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7FGF9, CDX2, GSX1, NEUROG1, PPP1R12A

Publications for Moebius Syndrome

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52PubMed
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Articles related to Moebius Syndrome:

(show top 50)    (show all 101)
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
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
5
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
6
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
7
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. (19882440)
2010
8
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
9
Oral implant rehabilitation in a patient with Moebius syndrome. (19300371)
2009
10
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
11
Moebius syndrome: clinical manifestations in a pediatric patient. (19722436)
2009
12
Correction of neglected clubfoot deformity in children with Moebius syndrome. (19276995)
2009
13
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. (17136552)
2007
14
A case of Moebius syndrome in association with Klinefelter syndrome. (12324877)
2002
15
Poland-Moebius syndrome: a case report. (11094187)
2000
16
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. (10389102)
1999
17
Moebius syndrome (moebius sequence). (23119569)
1999
18
Moebius syndrome: the new finding of hypertrophy of the coronoid process. (10388433)
1999
19
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc. (9695311)
1998
20
Moebius syndrome: report of case. (9096822)
1997
21
Physiological and perceptual features of dysarthria in Moebius syndrome: directions for treatment. (9689243)
1997
22
Association of atrial septal defect with Poland-Moebius syndrome: vascular disruption can be a common etiologic factor. A case report. (9071204)
1997
23
Moebius syndrome and central respiratory dysfunction. (9165516)
1997
24
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
25
Moebius syndrome: continuous tachypnea verified by a polygraphic study. (8133977)
1993
26
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. (8503272)
1993
27
Successful strabismus surgery in a child with Moebius syndrome. (8239323)
1993
28
Comments on "Reply to 'Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"'". (1412052)
1992
29
Bell's palsy in Moebius syndrome. (1911524)
1991
30
Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology". (1741852)
1991
31
Moebius syndrome in association with hypogonadotropic hypogonadism. (1940066)
1991
32
Moebius syndrome. (2319579)
1990
33
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. (2213851)
1990
34
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. (2618829)
1989
35
Autistic behaviour in Moebius syndrome. (2929356)
1989
36
Moebius' syndrome with unilateral cerebellar hypoplasia. (2810343)
1989
37
Extraocular muscle aplasia in Moebius syndrome. (3723293)
1986
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Moebius Syndrome:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 12EMD Millipore, 53QIAGEN, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG
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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
9.5PPP1R12A, CDX2
4
Show member pathways
9.4FGF9, PPP1R12A
59.4FGF9, PPP1R12A

Compounds for genes affiliated with Moebius Syndrome

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Moebius Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1111.6FGF9, CDX2, NEUROG1, PPP1R12A

GO Terms for genes affiliated with Moebius Syndrome

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16Gene Ontology
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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

Molecular functions related to Moebius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.8CDX2, GSX1, NEUROG1

Products for genes affiliated with Moebius Syndrome

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  • Lysates
  • Antibodies

Sources for Moebius Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet