MCID: MBS002
MIFTS: 53

Moebius Syndrome

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

Aliases & Classifications for Moebius Syndrome

MalaCards integrated aliases for Moebius Syndrome:

Name: Moebius Syndrome 53 49 24 50 55 36 13
Mobius Syndrome 53 12 49 24 51 41 14 69
Congenital Facial Diplegia 49 24 50 55
Moebius Sequence 53 49 24
Moebius Congenital Oculofacial Paralysis 12 24
Oromandibular-Limb Hypogenesis Spectrum 12 28
Mbs 53 49
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 49
Congenital Ophthalmoplegia and Facial Paresis 24
Congenital Facial Diplegia Syndrome 49
Congenital Oculofacial Paralysis 49
Mobius Syndrome; Mbs 53
Mobius Ii Syndrome 69
Moebius Spectrum 24
Möbius Sequence 24
Möbius Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
moebius syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
highly variable phenotype
most cases are sporadic
may occur cormorbidly with poland syndrome


HPO:

31
moebius syndrome:
Mortality/Aging death in infancy
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Moebius Syndrome

OMIM : 53 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings. (157900)

MalaCards based summary : Moebius Syndrome, also known as mobius syndrome, is related to poland syndrome and strabismus, 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, tongue and bone, and related phenotypes are cellular and mortality/aging

NIH Rare Diseases : 49 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 : 50 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. There are four recognized categories of Moebius syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.

Genetics Home Reference : 24 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.

Disease Ontology : 12 A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

Wikipedia : 72 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 89)
# Related Disease Score Top Affiliating Genes
1 poland syndrome 29.7 REV3L TUBB3
2 strabismus 29.4 PHOX2A TUBB3
3 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.9
4 facial paresis, hereditary congenital, 1 11.6
5 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.5
6 medulloblastoma 11.4
7 williams-beuren syndrome 11.2
8 chromosome 15q24 deletion syndrome 11.1
9 facial paresis, hereditary congenital, 2 11.0
10 hypoglossia-hypodactylia 10.9
11 moebius axonal neuropathy hypogonadism 10.9
12 cenani-lenz syndactyly syndrome 10.8
13 potocki-lupski syndrome 10.8
14 chromosome 2p16.1-p15 deletion syndrome 10.8
15 chromosome 17q23.1-q23.2 deletion syndrome 10.8
16 yuan-harel-lupski syndrome 10.8
17 chromosome 8p23.1 deletion 10.8
18 mental retardation smith fineman myers type 10.8
19 myocardial infarction 10.4
20 acute myocardial infarction 10.3
21 exotropia 10.2 PHOX2A TUBB3
22 facial nerve disease 10.2 PHOX2A TUBB3
23 hypotropia 10.1 PHOX2A TUBB3
24 paralytic squint 10.1 PHOX2A TUBB3
25 tukel syndrome 10.1 PHOX2A TUBB3
26 cell type cancer 10.1 CDX2 TUBB3
27 ocular motility disease 10.1 PHOX2A TUBB3
28 cranial nerve disease 10.0 PHOX2A TUBB3
29 hypogonadism 10.0
30 facial paralysis 9.9
31 neuropathy 9.9
32 breast cancer 9.9
33 episodic pain syndrome, familial, 1 9.9
34 hypertropia 9.9 FOXL2 TUBB3
35 microcephaly 9.9
36 kearns-sayre syndrome 9.9 PHOX2A TUBB3
37 cerebral palsy 9.9
38 atrial heart septal defect 9.9
39 cerebritis 9.9
40 neuronitis 9.9
41 malignant hyperthermia 9.9
42 dwarfism 9.9
43 alacrima, achalasia, and mental retardation syndrome 9.9
44 diabetes insipidus 9.8
45 schizophrenia 9.8
46 leprosy 3 9.8
47 heart disease 9.8
48 campomelic dysplasia 9.8
49 down syndrome 9.8
50 ischemia 9.8

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



Diseases related to Moebius Syndrome

Symptoms & Phenotypes for Moebius Syndrome

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckMouth:
palatal weakness
high-arched palate (61%)
tongue hypoplasia (77%)
asymmetric size of the tongue
limited tongue movement
more
SkeletalHands:
clinodactyly
brachydactyly
ectrodactyly
camptodactyly
syndactyly
more
AbdomenGastrointestinal:
dysphagia
feeding problems in infancy

HeadAndNeckFace:
mask-like facies
facial paresis, usually bilateral
lower facial muscles may be spared
micrognathia (64% of patients)

GenitourinaryExternalGenitaliaMale:
small penis
poorly-developed scrotum

EndocrineFeatures:
hypogonadotropic hypogonadism (rare)

HeadAndNeckNose:
flattened nasal bridge (81%)

Respiratory:
respiratory difficulties in infancy

Skeletal:
arthrogryposis (6%)

SkeletalLimbs:
lower limb deformities (69%)
hypoplasia of the lower limbs
anisomelia

NeurologicPeripheralNervousSystem:
loss of sensation in the face (trigeminal nerve region, cn v) (11%)
peripheral neuropathy has been reported in rare cases

HeadAndNeckNeck:
short neck

NeurologicCentralNervousSystem:
dysarthria
delayed motor development
mental retardation, mild
hypotonia in infancy
learning disabilities
more
SkeletalFeet:
pes planus
talipes equinovarus (44%)

HeadAndNeckEyes:
microphthalmia
esotropia
exotropia
abduction palsy, usually bilateral
adduction palsy, usually bilateral
more
GenitourinaryInternalGenitaliaMale:
hypoplastic testes

HeadAndNeckEars:
external ear defects (47%)

HeadAndNeckTeeth:
teeth defects (37%)

RespiratoryNasopharynx:
pharyngeal weakness

SkeletalPelvis:
hip defects

SkinNailsHairNails:
nail deformities

Voice:
nasal dysarthria


Clinical features from OMIM:

157900

Human phenotypes related to Moebius Syndrome:

55 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000602
2 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
3 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
4 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
5 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
6 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
7 facial palsy 55 31 hallmark (90%) Very frequent (99-80%) HP:0010628
8 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
9 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
10 abnormality of the ulna 55 31 occasional (7.5%) Occasional (29-5%) HP:0002997
11 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
12 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
13 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
14 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
15 micrognathia 55 31 very rare (1%) Occasional (29-5%) HP:0000347
16 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
17 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
18 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
19 microdontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000691
20 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
21 hypogonadotrophic hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000044
22 mask-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000298
23 arthrogryposis multiplex congenita 55 31 very rare (1%) Occasional (29-5%) HP:0002804
24 blepharitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000498
25 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
26 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
27 abnormality of the voice 55 31 hallmark (90%) Very frequent (99-80%) HP:0001608
28 open mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000194
29 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
30 talipes equinovarus 55 31 frequent (33%) Frequent (79-30%) HP:0001762
31 reduced number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0009804
32 abnormality of the sense of smell 55 31 occasional (7.5%) Occasional (29-5%) HP:0004408
33 aplasia/hypoplasia of the tongue 55 31 occasional (7.5%) Occasional (29-5%) HP:0010295
34 motor delay 55 31 frequent (33%) Frequent (79-30%) HP:0001270
35 aplasia/hypoplasia of the thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009601
36 absent hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0004050
37 aplasia/hypoplasia of the radius 55 31 occasional (7.5%) Occasional (29-5%) HP:0006501
38 aplasia/hypoplasia involving the metacarpal bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0005914
39 aplasia of the pectoralis major muscle 55 31 frequent (33%) Frequent (79-30%) HP:0009751
40 breast aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100783
41 respiratory distress 31 HP:0002098
42 clumsiness 31 HP:0002312
43 dysdiadochokinesis 31 HP:0002075
44 hypertelorism 31 very rare (1%) HP:0000316
45 short neck 31 HP:0000470
46 clinodactyly 31 HP:0030084
47 dysarthria 31 HP:0001260
48 gait disturbance 31 HP:0001288
49 depressed nasal bridge 31 HP:0005280
50 abnormality of the dentition 31 very rare (1%) HP:0000164

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome:

43
# 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:


# Name Status NCT ID Phase Drugs
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 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:

# Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum 28

Anatomical Context for Moebius Syndrome

MalaCards organs/tissues related to Moebius Syndrome:

38
Eye, Tongue, Bone, Brain, Testes, Skeletal Muscle, Pituitary

Publications for Moebius Syndrome

Articles related to Moebius Syndrome:

(show top 50) (show all 157)
# Title Authors Year
1
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome. ( 29289389 )
2018
2
Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies. ( 29424937 )
2018
3
An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome. ( 29356035 )
2018
4
Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report. ( 29098745 )
2017
5
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. ( 28777491 )
2017
6
Morphological changes in support mechanism of superficial face layers in Moebius syndrome. ( 29250664 )
2017
7
Three Cases of Exotropic Moebius Syndrome. ( 28196268 )
2017
8
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
9
Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome. ( 28409036 )
2017
10
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. ( 28299356 )
2017
11
"Rare place where I feel normal": Perceptions of a social support conference among parents of and people with Moebius syndrome. ( 28407536 )
2017
12
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. ( 26868039 )
2016
13
Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome. ( 28478475 )
2016
14
Caries Experience in Individuals with Moebius Syndrome. ( 26892218 )
2016
15
Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. ( 27729154 )
2016
16
Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome. ( 26942029 )
2016
17
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. ( 26921525 )
2016
18
Moebius syndrome: clinical features, diagnosis, management and early intervention. ( 27260152 )
2016
19
Salivary parameters and oral health in the Moebius syndrome. ( 27061084 )
2016
20
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT. ( 27276780 )
2016
21
Unmasking Moebius syndrome. ( 25785409 )
2015
22
Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )
2015
23
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. ( 25989267 )
2015
24
Examining the genetics of congenital facial paralysis-a closer look at Moebius syndrome. ( 25663568 )
2015
25
Moebius syndrome and narcolepsy: A case dissertation. ( 26483899 )
2014
26
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. ( 24612975 )
2014
27
Mirror movements identified in patients with moebius syndrome. ( 25120946 )
2014
28
Moebius syndrome with Taussig-Bing anomaly. ( 24584392 )
2014
29
"People are all about appearances": A focus group of teenagers with Moebius Syndrome. ( 24423573 )
2014
30
Moebius syndrome and hydrosyringomyelia: description of a new association. ( 22832772 )
2013
31
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. ( 23419067 )
2013
32
Oral motor assessment in individuals with Moebius syndrome. ( 23930941 )
2013
33
A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain. ( 23803678 )
2013
34
Temporomandibular joint dysfunction in Moebius Syndrome. ( 24313581 )
2013
35
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. ( 24565196 )
2013
36
Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum. ( 24470815 )
2013
37
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. ( 23683455 )
2013
38
Moebius syndrome with baroreflex failure in an adolescent female. ( 27625823 )
2012
39
Social interaction experiences of adults with Moebius Syndrome: a focus group. ( 22257565 )
2012
40
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. ( 21345046 )
2011
41
A neonate with Poland-Mobius syndrome. ( 22015131 )
2011
42
Maternal homocystinuria and Moebius syndrome? Vascular aetiology. ( 22707369 )
2011
43
Living with moebius syndrome: adjustment, social competence, and satisfaction with life. ( 20210634 )
2010
44
People with Moebius syndrome show improved adjustment to facial disorder. ( 20853726 )
2010
45
Congenital myotonic dystrophy associated with Moebius syndrome and double-outlet right ventricle. ( 20723129 )
2010
46
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. ( 19882440 )
2010
47
New report of a familial case of Moebius syndrome presenting skeletal findings. ( 20635408 )
2010
48
Moebius syndrome and holoprosencephaly following exposure to misoprostol. ( 20933185 )
2010
49
Soft tissue facial morphometry in subjects with Moebius syndrome. ( 20121933 )
2009
50
Moebius syndrome: clinical manifestations in a pediatric patient. ( 19722436 )
2009

Variations for Moebius Syndrome

ClinVar genetic disease variations for Moebius Syndrome:

6
# 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:

# 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

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 8.92 CDX2 FOXL2 NEUROG1 PHOX2A

Sources for Moebius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....