MCID: MBS002
MIFTS: 44

Moebius Syndrome malady

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

Aliases & Classifications for Moebius Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 52Orphanet, 12diseasecard, 11Disease Ontology, 13DISEASES, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Moebius Syndrome:

Name: Moebius Syndrome 50 46 23 24 47 52 12
Mobius Syndrome 11 46 23 24 13 48 37 66
Congenital Facial Diplegia 46 24 47 52
Moebius Sequence 46 23 24
Moebius Congenital Oculofacial Paralysis 11 24
Oromandibular-Limb Hypogenesis Spectrum 11 25
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 46
Congenital Ophthalmoplegia and Facial Paresis 24
 
Congenital Facial Diplegia Syndrome 46
Congenital Oculofacial Paralysis 46
Mobius Ii Syndrome 66
Möbius Sequence 24
Moebius Spectrum 24
Möbius Syndrome 52
Mbs 46

Characteristics:

Orphanet epidemiological data:

52
moebius syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal

HPO:

62
moebius syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 157900
Disease Ontology11 DOID:13501
ICD1028 Q87.0
MeSH37 D020331
NCIt43 C84893
SNOMED-CT60 393607001, 89444000
Orphanet52 ORPHA570
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 D020331
UMLS via Orphanet67 C0221060

Summaries for Moebius Syndrome

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OMIM:50 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 open mouth, mask-like facies and strabismus. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, bone and tongue.

NIH Rare Diseases:46 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:47 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.

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.

Wikipedia:69 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...

Related Diseases for Moebius Syndrome

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital nonprogressive, with moebius sequence and robin sequence12.1
2moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome11.9
3congenital nonprogressive myopathy with moebius and robin sequences11.5
4hereditary congenital facial paresis10.9
5moebius axonal neuropathy hypogonadism10.9
6myocardial infarction10.4
7acute myocardial infarction10.4
8williams-beuren syndrome10.4
9breast cancer10.2
10hypogonadism10.1
11facial paralysis10.0
12facial paresis, hereditary congenital, 110.0
13hypoglossia-hypodactylia10.0
14microcephaly9.9
15cerebral palsy9.9
16cerebritis9.9
17malignant hyperthermia9.9
18neuropathy9.9
19dwarfism9.9
20intellectual disability9.9
21potocki-lupski syndrome9.9
22chromosome 17q23.1-q23.2 deletion syndrome9.9
23chromosome 17q11.2 deletion syndrome, 1.4-mb9.9
24diabetes insipidus9.9
25schizophrenia9.9
26leprosy9.9
27campomelic dysplasia9.8
28down syndrome9.8
29ischemia9.8
30prader-willi syndrome9.8
31norrie disease9.8
32cerebellar hypoplasia9.8
33poland syndrome9.8
34holoprosencephaly9.8
35hypoplastic left heart syndrome9.8
36pulmonary edema9.8
37clubfoot9.8
38bell's palsy9.8
39kallmann syndrome9.8
40sleep disorder9.8
41strabismus9.8
42axonal neuropathy9.8
43hypogonadotropism9.8
44neuronitis9.8
45intussusception9.8
46narcolepsy9.8
47homocystinuria9.8
48myotonic dystrophy9.8
49baroreflex failure9.8
50myoclonus9.8

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:

 52 (show all 42)
  • hypogonadotrophic hypogonadism
  • cleft palate
  • open mouth
  • high palate
  • everted lower lip vermilion
  • epicanthus
  • mask-like facies
  • micrognathia
  • hearing impairment
  • strabismus
  • blepharitis
  • visual impairment
  • ptosis
  • ophthalmoplegia
  • microdontia
  • autism
  • brachydactyly syndrome
  • muscular hypotonia
  • motor delay
  • death in infancy
  • abnormality of the voice
  • talipes equinovarus
  • dysphagia
  • arthrogryposis multiplex congenita
  • abnormality of the ulna
  • skeletal muscle atrophy
  • absent hand
  • clinodactyly of the 5th finger
  • abnormality of the sense of smell
  • aplasia/hypoplasia involving the metacarpal bones
  • finger syndactyly
  • aplasia/hypoplasia of the radius
  • cranial nerve paralysis
  • multiple cafe-au-lait spots
  • corneal opacity
  • feeding difficulties in infancy
  • aplasia/hypoplasia of the thumb
  • aplasia of the pectoralis major muscle
  • reduced number of teeth
  • aplasia/hypoplasia of the tongue
  • facial palsy
  • breast aplasia

HPO human phenotypes related to Moebius Syndrome:

(show all 82)
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 micrognathia 64% HP:0000347
8 delayed speech and language development 55% HP:0000750
9 everted lower lip vermilion typical (50%) HP:0000232
10 brachydactyly syndrome typical (50%) HP:0001156
11 muscular hypotonia typical (50%) HP:0001252
12 talipes typical (50%) HP:0001883
13 opacification of the corneal stroma typical (50%) HP:0007759
14 feeding difficulties in infancy typical (50%) HP:0008872
15 aplasia of the pectoralis major muscle typical (50%) HP:0009751
16 hypertelorism 25% HP:0000316
17 bifid uvula 11% HP:0000193
18 cleft palate occasional (7.5%) HP:0000175
19 epicanthus occasional (7.5%) HP:0000286
20 micrognathia occasional (7.5%) HP:0000347
21 hearing impairment occasional (7.5%) HP:0000365
22 blepharitis occasional (7.5%) HP:0000498
23 visual impairment occasional (7.5%) HP:0000505
24 microdontia occasional (7.5%) HP:0000691
25 autism occasional (7.5%) HP:0000717
26 cafe-au-lait spot occasional (7.5%) HP:0000957
27 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
28 abnormality of the ulna occasional (7.5%) HP:0002997
29 skeletal muscle atrophy occasional (7.5%) HP:0003202
30 absent hand occasional (7.5%) HP:0004050
31 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
32 abnormality of the sense of smell occasional (7.5%) HP:0004408
33 finger syndactyly occasional (7.5%) HP:0006101
34 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
35 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
36 reduced number of teeth occasional (7.5%) HP:0009804
37 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
38 breast aplasia occasional (7.5%) HP:0100783
39 arthrogryposis multiplex congenita 6% HP:0002804
40 hypogonadotrophic hypogonadism HP:0000044
41 micropenis HP:0000054
42 high palate HP:0000218
43 epicanthus HP:0000286
44 mask-like facies HP:0000298
45 abnormality of the pinna HP:0000377
46 short neck HP:0000470
47 esotropia HP:0000565
48 microphthalmia HP:0000568
49 exotropia HP:0000577
50 abnormality of the posterior cranial fossa HP:0000932
51 brachydactyly syndrome HP:0001156
52 syndactyly HP:0001159
53 split hand HP:0001171
54 hand clenching HP:0001188
55 intellectual disability, mild HP:0001256
56 dysarthria HP:0001260
57 motor delay HP:0001270
58 gait disturbance HP:0001288
59 facial diplegia HP:0001349
60 congenital fibrosis of extraocular muscles HP:0001491
61 abnormality of the nail HP:0001597
62 abnormality of the voice HP:0001608
63 abnormality of the nasopharynx HP:0001739
64 talipes equinovarus HP:0001762
65 pes planus HP:0001763
66 dysphagia HP:0002015
67 dysdiadochokinesis HP:0002075
68 clumsiness HP:0002312
69 hypoplasia of the brainstem HP:0002365
70 poor coordination HP:0002370
71 abnormality of pelvic girdle bone morphology HP:0002644
72 respiratory difficulties HP:0002880
73 depressed nasal bridge HP:0005280
74 aplasia/hypoplasia involving the metacarpal bones HP:0005914
75 decreased testicular size HP:0008734
76 feeding difficulties in infancy HP:0008872
77 infantile muscular hypotonia HP:0008947
78 radial deviation of finger HP:0009466
79 short phalanx of finger HP:0009803
80 lower limb undergrowth HP:0009816
81 camptodactyly HP:0012385
82 clinodactyly HP:0030084

UMLS symptoms related to Moebius Syndrome:


hyperacusis, facial paresis, palatal paresis, hyperexplexia

Drugs & Therapeutics for Moebius Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Impairments of Oral Language in Mobius SyndromeCompletedNCT00856531
2Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
3Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersRecruitingNCT02055248

Search NIH Clinical Center for Moebius Syndrome


Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

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Genetic tests related to Moebius Syndrome:

id Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum25
2 Moebius Syndrome23 MBS3

Anatomical Context for Moebius Syndrome

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MalaCards organs/tissues related to Moebius Syndrome:

34
Eye, Bone, Tongue, Breast, Skeletal muscle, Pituitary, Heart

Animal Models for Moebius Syndrome or affiliated genes

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Publications for Moebius Syndrome

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Articles related to Moebius Syndrome:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Moebius syndrome: clinical features, diagnosis, management and early intervention. (27260152)
2016
2
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. (26921525)
2016
3
Unmasking Moebius syndrome. (25785409)
2015
4
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. (25989267)
2015
5
Moebius syndrome and narcolepsy: A case dissertation. (26483899)
2014
6
"People are all about appearances": A focus group of teenagers with Moebius Syndrome. (24423573)
2014
7
Mirror movements identified in patients with moebius syndrome. (25120946)
2014
8
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. (23419067)
2013
9
Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome. (24565196)
2013
10
Moebius syndrome and hydrosyringomyelia: description of a new association. (22832772)
2013
11
Social interaction experiences of adults with Moebius Syndrome: a focus group. (22257565)
2012
12
Moebius syndrome with baroreflex failure in an adolescent female. (27625823)
2012
13
Splenogonadal fusion: exceptional association with Moebius syndrome and intestinal intussusception. (21345046)
2011
14
Moebius syndrome and holoprosencephaly following exposure to misoprostol. (20933185)
2010
15
Oromandibular limb hypogenesis syndrome with no oromandibular features, or Moebius syndrome without facial palsy? A diagnostic conundrum. (19305193)
2009
16
Moebius syndrome associated with hypoplastic left heart syndrome. (19634579)
2009
17
Soft tissue facial morphometry in subjects with Moebius syndrome. (20121933)
2009
18
Historical perspective: first description of the Moebius syndrome. (18306115)
2008
19
A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. (17136552)
2007
20
Self-inflicted oral trauma in a baby with Moebius syndrome. (18482519)
2007
21
Moebius syndrome with total anomalous pulmonary venous connection. (16741330)
2006
22
A case of Moebius syndrome in association with Klinefelter syndrome. (12324877)
2002
23
Moebius syndrome with oral involvement. (12452989)
2002
24
Resiliency and success in adults with Moebius syndrome. (11386430)
2001
25
Poland-Moebius syndrome: a case report. (11094187)
2000
26
Moebius syndrome (moebius sequence). (23119569)
1999
27
Association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report. (10347731)
1999
28
Neuropathological findings in Moebius syndrome. (9761392)
1998
29
Moebius syndrome: a review of the anaesthetic implications. (8839089)
1996
30
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
31
Moebius syndrome associated with pituitary dwarfism and hypoplastic optic disc. (8503272)
1993
32
Successful strabismus surgery in a child with Moebius syndrome. (8239323)
1993
33
Comments on "Reply to 'Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology"'". (1412052)
1992
34
Comments on "Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology". (1741852)
1991
35
Moebius syndrome in association with hypogonadotropic hypogonadism. (1940066)
1991
36
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
37
Moebius syndrome. (2319579)
1990
38
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. (2213851)
1990
39
Autistic behaviour in Moebius syndrome. (2929356)
1989
40
Moebius syndrome: animal model--human correlations and evidence for a brainstem vascular etiology. (2683181)
1989
41
Childhood psychosis in a case of Moebius syndrome. (6483113)
1984
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
Moebius syndrome in Kallmann syndrome. (166632)
1975
47
Moebius' syndrome. Surgical management of a case. (4517696)
1973
48
Implications of congenital ophthalmoplegia for the development of visuo-motor functions (illustrated by a case with the Moebius syndrome). (4920609)
1970
49
OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME. (14338126)
1965
50
Congenital aglossia and congenital cerebro-facial palsy (Moebius' syndrome): two contrasting cases. (5222359)
1965

Variations for Moebius Syndrome

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Expression for genes affiliated with Moebius Syndrome

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Search GEO for disease gene expression data for Moebius Syndrome.

Pathways 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:00424729.4FGF9, NEUROG1

Sources for Moebius Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet