MBS
MCID: MBS002
MIFTS: 42

Moebius Syndrome (MBS) malady

Neuronal diseases, Eye diseases, Fetal diseases categories

Summaries for Moebius Syndrome

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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 myocardial infarction and acute myocardial infarction, and has symptoms including hand agenesis/absence, ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray and radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray. 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. Affiliated tissues include eye, tongue and bone.

NIH Rare Diseases:42 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

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.

Wikipedia:63 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...

Description from OMIM:46 157900

Aliases & Classifications for Moebius Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
moebius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

moebius syndrome 42 20 21 43 46 48
congenital facial diplegia 42 21 43 48
mobius syndrome 21 60
absence or underdevelopment of the 6th and 7th cranial nerves 42
fibrosis of extraocular muscles, congenital, 1 60
congenital ophthalmoplegia and facial paresis 21
moebius congenital oculofacial paralysis 21
congenital facial diplegia syndrome 42
congenital oculofacial paralysis 42
moebius spectrum 21
möbius sequence 21
moebius sequence 21
möbius syndrome 48
mbs 42


External Ids:

OMIM46 157900
MESH via Orphanet35 D020331
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C0221060

Related Diseases for Moebius Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Moebius Syndrome family:

Moebius Syndrome-3

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

(show top 50)    (show all 256)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction10.7
2acute myocardial infarction10.6
3fibrosis of extraocular muscles, congenital, 110.5
4breast cancer10.5
5poland syndrome10.3
6congenital fibrosis of the extraocular muscles10.3
7hypogonadism10.3
8möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.3
9congenital nonprogressive myopathy with moebius and robin sequences10.2
10microcephaly10.2
11intellectual disability10.2
12ischemia10.2
13rhabdomyosarcoma10.2
14schizophrenia10.2
15cerebritis10.2
16adult syndrome10.2
17cerebral palsy10.2
18facial paralysis10.2
19neuropathy10.2
20dwarfism10.2
21leprosy10.1
22mobius syndrome10.1
23diabetes insipidus10.1
24bone fracture10.1
25intermediate coronary syndrome10.1
26costello syndrome10.1
27malignant triton tumor10.1
28hypokalemia10.1
29neuroleptic malignant syndrome10.1
30down syndrome10.1
31acute kidney failure10.1
32adenosarcoma10.1
33compartment syndrome10.1
34interstitial nephritis10.1
35intestinal obstruction10.1
36meninges sarcoma10.1
37meningitis10.1
38muscular dystrophy10.1
39myocarditis10.1
40myopathy10.1
41neuromuscular disease10.1
42orbit rhabdomyosarcoma10.1
43pleomorphic rhabdomyosarcoma10.1
44carnitine palmitoyltransferase ii deficiency10.1
45acute mountain sickness10.1
46microscopic polyangiitis10.1
47polymyositis10.1
48cerebral aneurysms10.1
49cor pulmonale10.1
50cardiogenic shock10.1

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



Diseases related to moebius syndrome

Clinical Features for Moebius Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

157900

Clinical synopsis from OMIM:

157900

Symptoms:

48 (show all 43)
  • hand agenesis/absence
  • 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
  • anodontia/oligodontia/hypodontia
  • complete/partial microdontia
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • death in infancy
  • autosomal dominant inheritance
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autism/autistic disoders
  • late puberty/hypogonadism/hypogenitalism
  • cafe-au-lait spot
  • thumb hypoplasia/aplasia/absence
  • clinodactyly of fifth finger
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • high vaulted/narrow palate
  • protruding lips
  • corneal clouding/opacity/vascularisation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • cranial nerves palsy
  • abnormal cry/voice/phonation disorder/nasal speech
  • mouth held open
  • ptosis
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • strabismus/squint
  • facial palsy
  • absent pectoral muscles
  • short hand/brachydactyly
  • 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
  • talipes-varus/metatarsal varus
  • expressionless face/amimia

Drugs & Therapeutics for Moebius Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Moebius Syndrome

Drug clinical trials:

Search ClinicalTrials for Moebius Syndrome

Search NIH Clinical Center for Moebius Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Moebius Syndrome:

32
Eye, Tongue, Bone, Olfactory bulb, Breast

Animal Models for Moebius Syndrome or affiliated genes

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Publications for Moebius Syndrome

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Genetic Variations for Moebius Syndrome

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Expression for genes affiliated with Moebius Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Moebius Syndrome

Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for genes affiliated with Moebius Syndrome

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12EMD Millipore, 51QIAGEN
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Pathways related to Moebius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CDX2, NEUROG1
29.5CDX2, NEUROG1

Compounds for genes affiliated with Moebius Syndrome

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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:0459448.6GSX1, NEUROG1, PPP1R12A

Products for genes affiliated with Moebius Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Moebius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet