MBS
MCID: MBS002
MIFTS: 47

Moebius Syndrome (MBS) malady

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

Aliases & Classifications for Moebius Syndrome

Aliases & Descriptions for Moebius Syndrome:

Name: Moebius Syndrome 54 50 24 25 51 56 13
Mobius Syndrome 12 50 24 25 52 42 14 69
Congenital Facial Diplegia 50 25 51 56
Moebius Sequence 50 24 25
Moebius Congenital Oculofacial Paralysis 12 25
Oromandibular-Limb Hypogenesis Spectrum 12 29
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 50
Congenital Ophthalmoplegia and Facial Paresis 25
Congenital Facial Diplegia Syndrome 50
Congenital Oculofacial Paralysis 50
Mobius Ii Syndrome 69
Moebius Spectrum 25
Möbius Sequence 25
Möbius Syndrome 56
Mbs 50

Characteristics:

Orphanet epidemiological data:

56
moebius syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal;

HPO:

32
moebius syndrome:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 157900
Disease Ontology 12 DOID:13501
ICD10 33 Q87.0
MeSH 42 D020331
NCIt 47 C84893
SNOMED-CT 64 393607001 89444000
Orphanet 56 ORPHA570
ICD10 via Orphanet 34 Q87.0
MESH via Orphanet 43 D020331
UMLS via Orphanet 70 C0221060
UMLS 69 C0221060

Summaries for Moebius Syndrome

OMIM : 54 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 ophthalmoplegia, finger syndactyly and high palate. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, bone and tongue, and related phenotypes are cellular and mortality/aging

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 : 50 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 : 51 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 : 71 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...

Related Diseases for Moebius Syndrome

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

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 myopathy, congenital nonprogressive, with moebius sequence and robin sequence 12.0
2 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.8
3 congenital nonprogressive myopathy with moebius and robin sequences 11.6
4 williams-beuren syndrome 11.1
5 facial paresis, hereditary congenital, 1 10.8
6 hypoglossia-hypodactylia 10.8
7 potocki-lupski syndrome 10.8
8 chromosome 17q23.1-q23.2 deletion syndrome 10.8
9 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.8
10 moebius axonal neuropathy hypogonadism 10.8
11 myocardial infarction 10.3
12 acute myocardial infarction 10.2
13 alopecia areata 10.1 PHOX2A TUBB3
14 oliver syndrome 10.1 REV3L TUBB3
15 breast cancer 10.1
16 amyotrophic neuralgia 10.1 PHOX2A TUBB3
17 total third-nerve palsy 10.0 PHOX2A TUBB3
18 urinary bladder villous adenoma 10.0 PHOX2A TUBB3
19 mental retardation, autosomal dominant 7 10.0 PHOX2A TUBB3
20 lingual-facial-buccal dyskinesia 10.0 FOXL2 TUBB3
21 hypogonadism 10.0
22 chronic lacrimal gland enlargement 9.9 PHOX2A TUBB3
23 facial paralysis 9.9
24 microcephaly 9.8
25 strabismus 9.8
26 neuronitis 9.8
27 malignant hyperthermia 9.8
28 neuropathy 9.8
29 cerebritis 9.8
30 dwarfism 9.8
31 cerebral palsy 9.8
32 pontocerebellar hypoplasia 9.8 FOXL2 PHOX2A TUBB3
33 intellectual disability 9.8
34 diabetes insipidus 9.8
35 leprosy 9.7
36 schizophrenia 9.7
37 campomelic dysplasia 9.7
38 down syndrome 9.7
39 ischemia 9.7
40 holoprosencephaly 9.7
41 myoclonus 9.7
42 hypoplastic left heart syndrome 9.7
43 axonal neuropathy 9.7
44 hypogonadotropism 9.7
45 pulmonary edema 9.7
46 prader-willi syndrome 9.7
47 intussusception 9.7
48 clubfoot 9.7
49 bell's palsy 9.7
50 narcolepsy 9.7

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



Diseases related to Moebius Syndrome

Symptoms & Phenotypes for Moebius Syndrome

Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Human phenotypes related to Moebius Syndrome:

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000602
2 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
3 high palate 56 32 Occasional (29-5%) HP:0000218
4 ptosis 56 32 Very frequent (99-80%) HP:0000508
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 dysphagia 56 32 Frequent (79-30%) HP:0002015
7 facial palsy 56 32 Very frequent (99-80%) HP:0010628
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 corneal opacity 56 32 Frequent (79-30%) HP:0007957
10 abnormality of the ulna 56 32 Occasional (29-5%) HP:0002997
11 visual impairment 56 32 Occasional (29-5%) HP:0000505
12 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
13 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
14 cleft palate 56 32 Occasional (29-5%) HP:0000175
15 micrognathia 56 32 Occasional (29-5%) HP:0000347
16 strabismus 56 32 Very frequent (99-80%) HP:0000486
17 epicanthus 56 32 Occasional (29-5%) HP:0000286
18 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
19 microdontia 56 32 Occasional (29-5%) HP:0000691
20 autism 56 32 Occasional (29-5%) HP:0000717
21 hypogonadotrophic hypogonadism 56 32 Occasional (29-5%) HP:0000044
22 mask-like facies 56 32 Very frequent (99-80%) HP:0000298
23 arthrogryposis multiplex congenita 56 32 Occasional (29-5%) HP:0002804
24 blepharitis 56 32 Occasional (29-5%) HP:0000498
25 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
26 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
27 abnormality of the voice 56 32 Very frequent (99-80%) HP:0001608
28 open mouth 56 32 Very frequent (99-80%) HP:0000194
29 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
30 talipes equinovarus 56 32 Frequent (79-30%) HP:0001762
31 reduced number of teeth 56 32 Occasional (29-5%) HP:0009804
32 abnormality of the sense of smell 56 32 Occasional (29-5%) HP:0004408
33 aplasia/hypoplasia of the tongue 56 32 Occasional (29-5%) HP:0010295
34 motor delay 56 32 Frequent (79-30%) HP:0001270
35 aplasia/hypoplasia of the thumb 56 32 Occasional (29-5%) HP:0009601
36 absent hand 56 32 Occasional (29-5%) HP:0004050
37 aplasia/hypoplasia of the radius 56 32 Occasional (29-5%) HP:0006501
38 aplasia/hypoplasia involving the metacarpal bones 56 32 Occasional (29-5%) HP:0005914
39 aplasia of the pectoralis major muscle 56 32 Frequent (79-30%) HP:0009751
40 breast aplasia 56 32 Occasional (29-5%) HP:0100783
41 respiratory distress 32 HP:0002098
42 clumsiness 32 HP:0002312
43 dysdiadochokinesis 32 HP:0002075
44 hypertelorism 32 HP:0000316
45 short neck 32 HP:0000470
46 clinodactyly 32 HP:0030084
47 dysarthria 32 HP:0001260
48 gait disturbance 32 HP:0001288
49 depressed nasal bridge 32 HP:0005280
50 abnormality of the teeth 32 HP:0000164

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 CDX2 FGF9 NEUROG1 PHOX2A PLXND1 REV3L
2 mortality/aging MP:0010768 9.23 CDX2 FGF9 FOXL2 NEUROG1 PHOX2A PLXND1

Drugs & Therapeutics for Moebius Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Recruiting NCT02055248
4 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Moebius Syndrome

Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

Genetic tests related to Moebius Syndrome:

id Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum 29
2 Moebius Syndrome 24 MBS3

Anatomical Context for Moebius Syndrome

MalaCards organs/tissues related to Moebius Syndrome:

39
Eye, Bone, Tongue, Breast, Skeletal Muscle, Pituitary, Heart

Publications for Moebius Syndrome

Articles related to Moebius Syndrome:

(show top 50) (show all 127)
id Title Authors Year
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

ClinVar genetic disease variations for Moebius Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EBF3 NM_001005463.2(EBF3): c.577A> G (p.Lys193Glu) single nucleotide variant Likely pathogenic rs886040976 GRCh38 Chromosome 10, 129877827: 129877827

Expression for Moebius Syndrome

Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for Moebius Syndrome

GO Terms for Moebius Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.26 CDX2 FGF9 FOXL2 NEUROG1
2 inner ear morphogenesis GO:0042472 8.62 FGF9 NEUROG1

Sources for Moebius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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