MCID: MBS002
MIFTS: 49

Moebius Syndrome

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

Aliases & Classifications for Moebius Syndrome

MalaCards integrated aliases 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;

OMIM:

54
Inheritance:
autosomal dominant
isolated cases

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


HPO:

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


Classifications:



Summaries for Moebius Syndrome

OMIM : 54
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 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome and chromosome 17q11.2 deletion syndrome, 1.4-mb, and has symptoms including visual impairment, dysphagia and strabismus. 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

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. 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.

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:

(showing 72, show less)
id Related Disease Score Top Affiliating Genes
1 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.8
2 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.4
3 medulloblastoma 11.3
4 williams-beuren syndrome 11.0
5 hypoglossia-hypodactylia 10.8
6 facial paresis, hereditary congenital, 1 10.8
7 moebius axonal neuropathy hypogonadism 10.8
8 yuan-harel-lupski syndrome 10.7
9 potocki-lupski syndrome 10.7
10 chromosome 17q23.1-q23.2 deletion syndrome 10.7
11 chromosome 8p23.1 deletion 10.7
12 mental retardation smith fineman myers type 10.7
13 cenani-lenz syndactyly syndrome 10.7
14 myocardial infarction 10.3
15 endometriosis of ovary 10.3 PHOX2A TUBB3
16 acute myocardial infarction 10.3
17 cardiovascular cancer 10.2 PHOX2A TUBB3
18 peripheral vertigo 10.2 PHOX2A TUBB3
19 polydactyly, postaxial, with progressive myopia 10.2 REV3L TUBB3
20 abducens nerve disease 10.1 PHOX2A TUBB3
21 brown-vialetto-van laere syndrome 10.1 CDX2 TUBB3
22 microcephaly-micromelia syndrome 10.1 PHOX2A TUBB3
23 breast cancer 10.1
24 enterocele 10.0 PHOX2A TUBB3
25 hypogonadism 9.9
26 esotropia 9.9 FOXL2 TUBB3
27 pleomorphic carcinoma 9.9 PHOX2A TUBB3
28 facial paralysis 9.9
29 microcephaly 9.8
30 neuronitis 9.8
31 malignant hyperthermia 9.8
32 neuropathy 9.8
33 cerebritis 9.8
34 dwarfism 9.8
35 cerebral palsy 9.8
36 strabismus 9.8
37 intellectual disability 9.8
38 diabetes insipidus 9.8
39 schizophrenia 9.7
40 leprosy 9.7
41 campomelic dysplasia 9.7
42 down syndrome 9.7
43 ischemia 9.7
44 prader-willi syndrome 9.6
45 pulmonary edema 9.6
46 intussusception 9.6
47 clubfoot 9.6
48 bell's palsy 9.6
49 narcolepsy 9.6
50 homocystinuria 9.6
51 norrie disease 9.6
52 myotonic dystrophy 9.6
53 baroreflex failure 9.6
54 cerebellar hypoplasia 9.6
55 poland syndrome 9.6
56 kallmann syndrome 9.6
57 carey-fineman-ziter syndrome 9.6
58 sleep disorder 9.6
59 holoprosencephaly 9.6
60 hypoplastic left heart syndrome 9.6
61 axonal neuropathy 9.6
62 myoclonus 9.6
63 hypogonadotropic hypogonadism 9.6
64 hypogonadotropism 9.6
65 heart disease 9.6
66 prostatitis 9.6
67 prostate cancer 9.6
68 rhabdomyosarcoma 9.6
69 jacobsen syndrome 9.6
70 porencephaly 9.4 FOXL2 PHOX2A TUBB3
71 46 xx gonadal dysgenesis 9.4 FGF9 FOXL2
72 peters-plus syndrome 6.1 CDX2 FGF9 FOXL2 MBS1 MBS3 MT-TA

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:

54

Neurologic- Central Nervous System:
delayed motor development
dysarthria
learning disabilities
mental retardation, mild
hypotonia in infancy
more
Abdomen- Gastroin testinal:
dysphagia
feeding problems in infancy

Head And Neck- Neck:
short neck

Genitourinary- External Genitalia Male:
small penis
poorly-developed scrotum

Endocrine Features:
hypogonadotropic hypogonadism (rare)

Head And Neck- Ears:
external ear defects (47%)

Head And Neck- Mouth:
high-arched palate (61%)
tongue hypoplasia (77%)
asymmetric size of the tongue
limited tongue movement
tongue paresis, unilateral
more
Respiratory- Nasopharynx:
pharyngeal weakness

Skeletal:
arthrogryposis (6%)

Skeletal- Limbs:
lower limb deformities (69%)
hypoplasia of the lower limbs
anisomelia

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

Skeletal- Hands:
brachydactyly
camptodactyly
clinodactyly
syndactyly
clenched hands
more
Head And Neck- Eyes:
microphthalmia
esotropia
exotropia
abduction palsy, usually bilateral
adduction palsy, usually bilateral
more
Skeletal- Feet:
pes planus
talipes equinovarus (44%)

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

Respiratory:
respiratory difficulties in infancy

Head And Neck- Nose:
flattened nasal bridge (81%)

Head And Neck- Teeth:
teeth defects (37%)

Genitourinary- Internal Genitalia Male:
hypoplastic testes

Skeletal- Pelvis:
hip defects

Skin Nails & Hair- Nails:
nail deformities

Voice:
nasal dysarthria


Clinical features from OMIM:

157900

Human phenotypes related to Moebius Syndrome:

56 32 (showing 79, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
3 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
4 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 micrognathia 56 32 very rare (1%) Occasional (29-5%) HP:0000347
6 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 arthrogryposis multiplex congenita 56 32 very rare (1%) Occasional (29-5%) HP:0002804
8 talipes equinovarus 56 32 frequent (33%) Frequent (79-30%) HP:0001762
9 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
10 motor delay 56 32 frequent (33%) Frequent (79-30%) HP:0001270
11 open mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000194
12 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
13 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
14 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
15 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
16 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
17 microdontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000691
18 ophthalmoplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000602
19 blepharitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000498
20 facial palsy 56 32 hallmark (90%) Very frequent (99-80%) HP:0010628
21 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
22 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
23 mask-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000298
24 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
25 breast aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100783
26 hypogonadotrophic hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000044
27 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
28 abnormality of the ulna 56 32 occasional (7.5%) Occasional (29-5%) HP:0002997
29 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
30 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
31 abnormality of the voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001608
32 reduced number of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0009804
33 abnormality of the sense of smell 56 32 occasional (7.5%) Occasional (29-5%) HP:0004408
34 aplasia/hypoplasia of the tongue 56 32 occasional (7.5%) Occasional (29-5%) HP:0010295
35 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009601
36 absent hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0004050
37 aplasia/hypoplasia of the radius 56 32 occasional (7.5%) Occasional (29-5%) HP:0006501
38 aplasia/hypoplasia involving the metacarpal bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0005914
39 aplasia of the pectoralis major muscle 56 32 frequent (33%) Frequent (79-30%) HP:0009751
40 brachydactyly 32 frequent (33%) HP:0001156
41 dysarthria 32 HP:0001260
42 depressed nasal bridge 32 HP:0005280
43 micropenis 32 HP:0000054
44 hypertelorism 32 very rare (1%) HP:0000316
45 microphthalmia 32 HP:0000568
46 respiratory distress 32 HP:0002098
47 camptodactyly 32 HP:0012385
48 short neck 32 HP:0000470
49 bifid uvula 32 very rare (1%) HP:0000193
50 esotropia 32 HP:0000565
51 clinodactyly 32 HP:0030084
52 intellectual disability, mild 32 HP:0001256
53 syndactyly 32 HP:0001159
54 facial diplegia 32 HP:0001349
55 pes planus 32 HP:0001763
56 death in infancy 56 Occasional (29-5%)
57 dysdiadochokinesis 32 HP:0002075
58 exotropia 32 HP:0000577
59 gait disturbance 32 HP:0001288
60 poor coordination 32 HP:0002370
61 split hand 32 HP:0001171
62 clumsiness 32 HP:0002312
63 cranial nerve paralysis 56 Very frequent (99-80%)
64 hypoplasia of the brainstem 32 HP:0002365
65 decreased testicular size 32 HP:0008734
66 delayed speech and language development 32 very rare (1%) HP:0000750
67 congenital fibrosis of extraocular muscles 32 HP:0001491
68 abnormality of the nail 32 HP:0001597
69 abnormality of the pinna 32 HP:0000377
70 brachydactyly syndrome 56 Frequent (79-30%)
71 abnormality of pelvic girdle bone morphology 32 HP:0002644
72 hand clenching 32 HP:0001188
73 short phalanx of finger 32 HP:0009803
74 radial deviation of finger 32 HP:0009466
75 abnormality of the posterior cranial fossa 32 HP:0000932
76 lower limb undergrowth 32 HP:0009816
77 infantile muscular hypotonia 32 HP:0008947
78 abnormality of the dentition 32 very rare (1%) HP:0000164
79 abnormality of the nasopharynx 32 HP:0001739

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome:

44 (showing 2, show less)
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 REV3L TUBB3 CDX2 FGF9 FOXL2 NEUROG1

Drugs & Therapeutics for Moebius Syndrome

Interventional clinical trials:

(showing 4, show less)

id Name Status NCT ID Phase Drugs
1 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Unknown status NCT02055248
2 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
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, Tongue, Bone, Brain, Testes, Breast, Skeletal Muscle

Publications for Moebius Syndrome

Articles related to Moebius Syndrome:

(showing 128, show less)
id Title Authors Year
1
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. ( 28299356 )
2017
2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. ( 28777491 )
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
Three Cases of Exotropic Moebius Syndrome. ( 28196268 )
2017
5
Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome. ( 28409036 )
2017
6
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
7
Caries Experience in Individuals with Moebius Syndrome. ( 26892218 )
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
Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. ( 27729154 )
2016
11
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT. ( 27276780 )
2016
12
Salivary parameters and oral health in the Moebius syndrome. ( 27061084 )
2016
13
Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome. ( 26942029 )
2016
14
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. ( 26921525 )
2016
15
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. ( 26868039 )
2016
16
Unmasking Moebius syndrome. ( 25785409 )
2015
17
Examining the genetics of congenital facial paralysis-a closer look at Moebius syndrome. ( 25663568 )
2015
18
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. ( 25989267 )
2015
19
Moebius syndrome with Taussig-Bing anomaly. ( 24584392 )
2014
20
Mirror movements identified in patients with moebius syndrome. ( 25120946 )
2014
21
"People are all about appearances": A focus group of teenagers with Moebius Syndrome. ( 24423573 )
2014
22
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. ( 24612975 )
2014
23
Moebius syndrome and narcolepsy: A case dissertation. ( 26483899 )
2014
24
Temporomandibular joint dysfunction in Moebius Syndrome. ( 24313581 )
2013
25
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. ( 24565196 )
2013
26
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. ( 23683455 )
2013
27
Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum. ( 24470815 )
2013
28
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. ( 23419067 )
2013
29
Moebius syndrome and hydrosyringomyelia: description of a new association. ( 22832772 )
2013
30
Oral motor assessment in individuals with Moebius syndrome. ( 23930941 )
2013
31
Social interaction experiences of adults with Moebius Syndrome: a focus group. ( 22257565 )
2012
32
Moebius syndrome with baroreflex failure in an adolescent female. ( 27625823 )
2012
33
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. ( 21345046 )
2011
34
Maternal homocystinuria and Moebius syndrome? Vascular aetiology. ( 22707369 )
2011
35
Moebius syndrome and holoprosencephaly following exposure to misoprostol. ( 20933185 )
2010
36
Facial mimicry is not necessary to recognize emotion: Facial expression recognition by people with Moebius syndrome. ( 19882440 )
2010
37
Congenital myotonic dystrophy associated with Moebius syndrome and double-outlet right ventricle. ( 20723129 )
2010
38
New report of a familial case of Moebius syndrome presenting skeletal findings. ( 20635408 )
2010
39
People with Moebius syndrome show improved adjustment to facial disorder. ( 20853726 )
2010
40
Living with moebius syndrome: adjustment, social competence, and satisfaction with life. ( 20210634 )
2010
41
Correction of neglected clubfoot deformity in children with Moebius syndrome. ( 19276995 )
2009
42
Oral implant rehabilitation in a patient with Moebius syndrome. ( 19300371 )
2009
43
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
44
Moebius syndrome associated with hypoplastic left heart syndrome. ( 19634579 )
2009
45
Soft tissue facial morphometry in subjects with Moebius syndrome. ( 20121933 )
2009
46
Moebius syndrome with atrial septal defect. ( 19907896 )
2009
47
Oromandibular limb hypogenesis syndrome with no oromandibular features, or Moebius syndrome without facial palsy? A diagnostic conundrum. ( 19305193 )
2009
48
Moebius syndrome: clinical manifestations in a pediatric patient. ( 19722436 )
2009
49
Historical perspective: first description of the Moebius syndrome. ( 18306115 )
2008
50
The faces of Moebius syndrome: recognition and anticipatory guidance. ( 18758328 )
2008
51
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. ( 17136552 )
2007
52
Ectopic bone formation as a complication of surgical rehabilitation in patients with Moebius' syndrome. ( 17855104 )
2007
53
Self-inflicted oral trauma in a baby with Moebius syndrome. ( 18482519 )
2007
54
Moebius syndrome: measures of observer intelligibility with versus without visual cues in bilateral facial paralysis. ( 17760482 )
2007
55
Moebius syndrome with total anomalous pulmonary venous connection. ( 16741330 )
2006
56
A report of paracentric inversion of chromosome 8 in Moebius syndrome. ( 16543199 )
2006
57
Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome. ( 16053910 )
2005
58
Poland-Moebius syndrome: a case with oral anomalies. ( 15533220 )
2004
59
The effects of gracilis muscle transplantation on speech in children with Moebius syndrome. ( 14501329 )
2003
60
Cataplexy in association with Moebius syndrome. ( 12528006 )
2003
61
A case of Moebius syndrome in association with Klinefelter syndrome. ( 12324877 )
2002
62
Moebius syndrome with oral involvement. ( 12452989 )
2002
63
Resiliency and success in adults with Moebius syndrome. ( 11386430 )
2001
64
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. ( 11288711 )
2001
65
Poland-Moebius syndrome: a case report. ( 11094187 )
2000
66
Moebius syndrome (moebius sequence). ( 23119569 )
1999
67
Moebius syndrome: the new finding of hypertrophy of the coronoid process. ( 10388433 )
1999
68
Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. ( 10389102 )
1999
69
Association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report. ( 10347731 )
1999
70
Segmental facial myoclonus in moebius syndrome. ( 10584681 )
1999
71
A severe case of Moebius syndrome with calcification on the fourth ventricular floor. ( 9610001 )
1998
72
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc. ( 9695311 )
1998
73
Neuropathological findings in Moebius syndrome. ( 9761392 )
1998
74
Physiological and perceptual features of dysarthria in Moebius syndrome: directions for treatment. ( 9689243 )
1997
75
Moebius syndrome and central respiratory dysfunction. ( 9165516 )
1997
76
Association of atrial septal defect with Poland-Moebius syndrome: vascular disruption can be a common etiologic factor. A case report. ( 9071204 )
1997
77
Moebius syndrome: report of case. ( 9096822 )
1997
78
Moebius syndrome, an axonal neuropathy and hypogonadism. ( 8905202 )
1996
79
Two cases of maternal antenatal splenic rupture and hypotension associated with Moebius syndrome and cerebral palsy in offspring. Further evidence for a utero placental vascular aetiology for the Moebius syndrome and some cases of cerebral palsy. ( 8874116 )
1996
80
Moebius syndrome: a review of the anaesthetic implications. ( 8839089 )
1996
81
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. ( 8503272 )
1993
82
Successful strabismus surgery in a child with Moebius syndrome. ( 8239323 )
1993
83
Moebius syndrome: continuous tachypnea verified by a polygraphic study. ( 8133977 )
1993
84
Comments on "Reply to 'Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"'". ( 1412052 )
1992
85
Moebius syndrome in an infant exposed in utero to benzodiazepines. ( 1432444 )
1992
86
Moebius syndrome in association with hypogonadotropic hypogonadism. ( 1940066 )
1991
87
Deletion of chromosome 13 in Moebius syndrome. ( 1870098 )
1991
88
Bell's palsy in Moebius syndrome. ( 1911524 )
1991
89
Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology". ( 1741852 )
1991
90
Poland-Moebius syndrome in a boy and Poland syndrome in his mother. ( 1773538 )
1991
91
Moebius syndrome with central hypoventilation and brainstem calcification: a case report. ( 1954965 )
1991
92
Editorial reply to "Comments on 'Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"': case observation vs. epidemiology studies. ( 1882345 )
1991
93
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. ( 2213851 )
1990
94
Moebius syndrome. ( 2319579 )
1990
95
Autistic behaviour in Moebius syndrome. ( 2929356 )
1989
96
Moebius' syndrome with unilateral cerebellar hypoplasia. ( 2810343 )
1989
97
Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. ( 2618829 )
1989
98
Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology. ( 2683181 )
1989
99
Moebius' syndrome: a report of two cases. ( 3385327 )
1988
100
Extraocular muscle aplasia in Moebius syndrome. ( 3723293 )
1986
101
The spectrum of congenital facial diplegia (Moebius syndrome). ( 3880403 )
1985
102
Anesthetic management of a patient with Moebius syndrome. ( 3977098 )
1985
103
Childhood psychosis in a case of Moebius syndrome. ( 6483113 )
1984
104
Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion. ( 6723108 )
1984
105
Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome. ( 6323150 )
1983
106
Moebius syndrome in a child and extremity defect in her father. ( 7160102 )
1982
107
Kinesiographic and electromyographic analysis of the masticatory muscles in Moebius' syndrome. ( 6964444 )
1982
108
Heterogeneity and pleiotropism in the Moebius syndrome. ( 7333017 )
1981
109
Moebius syndrome associated with bilateral hypopigmentation of the areola case report. ( 83768 )
1978
110
Speech, language and hearing in Moebius syndrome: a study of 22 patients. ( 208901 )
1978
111
Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism. ( 204751 )
1978
112
Moebius syndrome. ( 282146 )
1978
113
Moebius syndrome. Case report was a 30-year follow-up. ( 897005 )
1977
114
Arson and Moebius' syndrome- a case study of stigmatization. ( 840000 )
1977
115
The Moebius syndrome: bilateral facial diplegia. A discourse on the symptoms, pathology, and a surgical dynamic animation of the paralyzed face. ( 975734 )
1976
116
Animation of facial palsy in Moebius syndrome by means of a circumoral sling: case report. ( 1070504 )
1976
117
Moebius syndrome. ( 1056990 )
1975
118
Surgical treatment of Moebius syndrome by platsma and temporalis muscle transfers. ( 1118489 )
1975
119
Moebius syndrome in Kallmann syndrome. ( 166632 )
1975
120
Moebius' syndrome. Surgical management of a case. ( 4517696 )
1973
121
Moebius syndrome associated with the mother taking thalidomide during gestation. Case report. ( 4687573 )
1973
122
Moebius syndrome. (A case report). ( 5023638 )
1972
123
Moebius syndrome, ectrodactyly, hypoplasia of tongue and pectoral muscles. ( 5173229 )
1971
124
Implications of congenital ophthalmoplegia for the development of visuo-motor functions (illustrated by a case with the Moebius syndrome). ( 4920609 )
1970
125
Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism. ( 5528546 )
1970
126
OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME. ( 14338126 )
1965
127
Congenital aglossia and congenital cerebro-facial palsy (Moebius' syndrome): two contrasting cases. ( 5222359 )
1965
128
Creatinuria in Moebius syndrome. ( 13782861 )
1960

Variations for Moebius Syndrome

ClinVar genetic disease variations for Moebius Syndrome:

6 (showing 1, show less)
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:

(showing 2, show less)
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
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10 dbSNP
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16 ExPASy
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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