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{{Infobox_Disease |
== Historical Perspective: ==
  Name          = {{PAGENAME}} |
Moebius syndrome (MS) is a rare congenital neurological condition that affects the muscle in the face and eye from birth. patients of this disease face problem in mouth moment including smiling, chewing and eye moment is also affected particularly sideways eye moments, except these facial issues problems with other body parts is also observed. A. Von Graefe, describe the first case of MS later detailed report about the condition and name was put forward by Paul Julius Moebius in 1888<ref name="pmidPMID: 37868706">{{cite journal|author=Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M|display-authors=etal|title=Moebius Syndrome: An Updated Review of Literature.|journal=Child Neurol Open|year=2023|volume=10|issue=|pages=2329048X231205405|pmid=PMID: 37868706|doi=10.1177/2329048X231205405|pmc=10588417|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=37868706}}</ref>
  Image          = |
  Caption        = |
  DiseasesDB    = 31978 |
  ICD10          = {{ICD10|Q|87|0|q|80}} |
  ICD9          = {{ICD9|352.6}} |
  ICDO          = |
  OMIM          = 157900 |
  MedlinePlus    = |
  eMedicineSubj  = neuro |
  eMedicineTopic = 612 |
  MeshID        = D020331 |
}}
{{SI}}
{{CMG}}


{{EH}}
== Pathophysiology: ==
Patients with MS shows symptoms of paralysis of that [[facial nerve]] (CN VII) in about 96% of cases leading difficulties with facial movement such as swallowing, sucking, speaking and making facial expressions . Additionally eye movement nerve paralysis (CN VI) in approximatel85% of the cases resulting in problem with eye movement, dry eyes and various patterns of eyes abnormalities are observed that can help in understanding the physiological type of nerve damage. MS can cause with bone and muscular issues like [[club foot]], fuse fingers and toes curved spines condition like [[kyphosis]] and and [[scoliosis]]<ref name="pmidPMID: 27260152.">{{cite journal|author=Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F|display-authors=etal|title=Moebius syndrome: clinical features, diagnosis, management and early intervention.|journal=Ital J Pediatr|year=2016|volume=42|issue=1|pages=56|pmid=PMID: 27260152.|doi=10.1186/s13052-016-0256-5|pmc=4893276|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27260152}}</ref>The exact pathophysiology of the disease is not clear; theories suggest that both genetic and environmental factors may contribute to the development of the diseases affecting the baby before birth. It is considered that around the sixth week of pregnancy, the fetus may not receive enough oxygen supply to the brain-stem, possibly and this due to blood flow problem in sub-clavian artery such as blood clot or narrowing of vessels. This may be linked to the used of certain drugs during pregnancy like misoprostolor or [[cocaine]]. The abnormal flow of blood could affect parts of the brain causing tissue damage, scarring and calcium buildup. However, the specific impact of blood flow on the sub-clavian artery and its effect on the facial and abducens nerves in MS is not fully understood <ref name="pmidPMID: 1525305">{{cite journal|author=Trilla M, Cano JF|title=[Diabetes mellitus and primary care: The Saint Vincent's Declaration].|journal=Aten Primaria|year=1992|volume=9|issue=9|pages=469-70|pmid=PMID: 1525305|doi=|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1525305}}</ref>.Other factor that could contribute to this disease is genetic it has been suggest that MS may be linked to abnormalities in two specific loci of chromosomes 3 and 10 and some cases of MS shows de-novo mutation in gene associated with the facial muscle weakness such as [[REV3L]] and [[PLXND1]] <ref name="pmidPMID: 28061881">{{cite journal|author=Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B|display-authors=etal|title=Moebius sequence -a multidisciplinary clinical approach.|journal=Orphanet J Rare Dis|year=2017|volume=12|issue=1|pages=4|pmid=PMID: 28061881|doi=10.1186/s13023-016-0559-z|pmc=5217236|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28061881}}</ref>.Other less common gene implicated in MS includes HOXA1, HOXB1, and TUBB3, In very few cases diseases appear to be inherited passed down from generation to generation.<ref name="pmidPMID: 20074521">{{cite journal|author=Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W|display-authors=etal|title=Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.|journal=Cell|year=2010|volume=140|issue=1|pages=74-87|pmid=PMID: 20074521|doi=10.1016/j.cell.2009.12.011|pmc=3164117|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20074521}}</ref>


'''Mobius syndrome''' (also spelled '''Moebius''') is an extremely rare neurological disorder.
== Causes: ==
Due to multifaceted manifestation of the disease it is difficult to find out the exact cause of the disease however, some studies suggest some potential causes that mainly include genetic factor and Ischemic & Embryonic origin.


It is named for [[Paul Julius Möbius]].<ref>{{WhoNamedIt|doctor|33}}</ref><ref>Mobius PJ. Uber angeboren doppelseitige abducens-facialis-lahmung. Munchen Medizinische Wochenschrift. 1888;35:91-4.</ref>
=== Genetic cause: ===
Some studies suggest that changes in certain genes are associated with MS these include [[PLXND1]] and REV3L as well as homeobox genes such as [[HOXA1]], [[HOXB1]], and [[SOX14]] which are found at certain area of chromosomes that are linked to the disease. These genes are responsible of development of facial and brain structures. Mostly MS cases are sporadic but there are some cases where it seems to run in families.<ref name="pmidPMID: 30604920">{{cite journal|author=De Stefani E, Nicolini Y, Belluardo M, Ferrari PF|title=Congenital facial palsy and emotion processing: The case of Moebius syndrome.|journal=Genes Brain Behav|year=2019|volume=18|issue=1|pages=e12548|pmid=PMID: 30604920|doi=10.1111/gbb.12548|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30604920}}</ref>


==Clinical features==
=== Ischemic & Embryonic Basis: ===
Mobius syndrome is caused by abnormal development of the [[cranial nerves]]. This rare disorder has a number of causes. Most often affected are the cranial nerves [[Abducens nerve|VI]] and [[Facial nerve|VII]]. Occasionally the cranial nerves [[Trigeminal nerve|V]] and [[Vestibulocochlear nerve|VIII]] are affected.  
Some researchers believe that MS may be caused by issues during early fatal development, hypothesis suggest that abnormal blood flow or lack of blood flow to specific part of the body of developing fetus could be the key feature of the diseases that can lead to the MS<ref name="pmidPMID: 3008556">{{cite journal|author=Bavinck JN, Weaver DD|title=Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.|journal=Am J Med Genet|year=1986|volume=23|issue=4|pages=903-18|pmid=PMID: 3008556|doi=10.1002/ajmg.1320230405|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3008556}}</ref>.


If the cranial nerve VI is affected, the patient suffers from reduction of lateral gaze. If cranial nerve VII is affected, the patient suffers from bilateral facial palsy &mdash; mask-like expressionless face, often with the upper lip retracted due to muscle shrinkage. If cranial VIII is affected the patient suffers from hearing loss.
=== Other Causes: ===
Some harmful substance such as [[Teratology|teratogens]] like alcohol, cocaine and [[ergotamine]] as well as the drug [[thalidomide]], [[misoprostol]] are the cause of the disease and in rare cases there is some consideration of linked between reproductive technologies and Moebius syndrome, a study suggest that as unusually shaped uterus of the mother like a [[Unicornuate uterus|unicornuate]] or [[Bicornuate uterus|bicornuate]] uterus may also linked to the diseases.<ref name="pmidPMID: 19639653">{{cite journal|author=Miller MT, Ventura L, Strömland K|title=Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected.|journal=Birth Defects Res A Clin Mol Teratol|year=2009|volume=85|issue=8|pages=667-76|pmid=PMID: 19639653|doi=10.1002/bdra.20609|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19639653}}</ref>


Although its rarity often leads to late diagnosis, [[infant]]s with this disorder can be identified at birth: by a "mask-like" expression detectable during crying or laughing due to [[paresis]] (palsy) of the sixth and seventh cranial nerves.
== Epidemiology and Demographics :<ref name="pmidPMID: 37868706">{{cite journal|author=Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M|display-authors=etal|title=Moebius Syndrome: An Updated Review of Literature.|journal=Child Neurol Open|year=2023|volume=10|issue=|pages=2329048X231205405|pmid=PMID: 37868706|doi=10.1177/2329048X231205405|pmc=10588417|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=37868706}}</ref> ==
Other characteristics include:
A recent survey of the diseases suggests that about 0.3 out of every 100,000 babies are born
* abnormalities in the lower appendages, [[limb]]s &mdash;  their [[finger]]s may be webbed, shorter than usual or they may have more than 5 toes on their foot
* impaired listening ability
* inability to follow objects with the eye&mdash;instead the child turns his or her head to follow
* crossed legs while in fetus
* limitation of heart movement
* exposure keratopathy or [[corneal erosion]]
* Hearing loss due to fluid in the ear or nerve loss
Later on, the child may develop speech difficulties, crossed eyes, abnormally small eyes, and fluid building up in the [[lung]]s, causing [[bronchopneumonia]].  Moebius syndrome has also been linked to increased occurrence of the symptoms of [[autism]].<ref>Gillberg C, Steffenburg S. (1989). "''[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=2929356&query_hl=4&itool=pubmed_docsum Autistic behaviour in Moebius syndrome]''"</ref> Some children with Mobius syndrome are mistakenly labelled as [[mentally retarded]], due to their expressionless faces, [[strabismus]], and frequent [[drooling]].


==Treatment==
with MS.
There is no single course of medical treatment for Mobius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes, protect the [[cornea]] (via frequent lubrication or [[tarsorraphy]]), and improve limb and jaw deformities. Physical and speech therapy can improve motor skills and coordination, and lead to better control of speaking and eating abilities. Nerve and muscle transfers to the corners of the mouth can be performed to provide ability to smile.


==Pathological picture==
=== Gender: ===
The causes of Mobius syndrome are poorly understood. Many cases have no obvious cause. Others may be genetic.
There is no difference of incidence among male and female.


Some cases are associated with reciprocal translocation between [[chromosome]]s or maternal illness. Some maternal trauma may result in impaired or interrupted blood flow ([[Ischemia]]) or lack of oxygen ([[Hypoxia (medical)|Hypoxia]]) to a developing fetus.  The use of [[medication|drugs]] and a traumatic [[pregnancy]] may also be linked to the development of Mobius syndrome.
=== Race: ===
The use of the drugs [[Misoprostol]] or [[Thalidomide]] by women during pregnancy has been linked to the development of Mobius syndrome in some cases.  
No difference of diseases is observed in races.


Some researchers have suggested that the underlying problem of this disorder could be congenital hypoplasia or agenesis of the cranial nerve nuclei.  Certain symptoms associated with Mobius syndrome may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system.
== Diagnosis: ==
To differentiate MS from other diseases various tests and imaging techniques are performed that help in diagnosis including [[electromyography]] (EMG), [[Nerve conduction study|nerve conduction studies]] (NCS), ultrasound, MRI, genetic testing


In the majority of cases of Mobius syndrome in which autosomal dominant inheritance is suspected, sixth and seventh cranial nerve paralysis (palsy) occurs without associated limb abnormalities.
=== EMG and NCS: ===
These tests help to distinguish diseases from other facial conditions that resembles to MS. <ref name="pmidPMID: 33389762">{{cite journal|author=Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A|display-authors=etal|title=Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.|journal=Muscle Nerve|year=2021|volume=63|issue=4|pages=516-524|pmid=PMID: 33389762|doi=10.1002/mus.27159|pmc=8353595|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33389762}}</ref>


==Oral/dental concerns==
=== MRI: ===
It is helpful to find the clear image of cranial nerve and related structures revealing the absence of facial and [[abducens]] nerves which are the key sign of the MS Additionally other findings include an underdeveloped [[brain stem]] characterized by flattened floor of the fourth ventricle, [[calcification]] in the pons (specifically where the sixth cranial nerve nuclei are located), absence of normal structure of [[medulla]] and an underdeveloped [[cerebellum]]. These abnormalities in the brain stem, such as pons and medulla support the diagnosis of MS.<ref name="pmidPMID: 28104946">{{cite journal|author=Srinivas MR, Vaishali DM, Vedaraju KS, Nagaraj BR|title=Mobious syndrome: MR findings.|journal=Indian J Radiol Imaging|year=2016|volume=26|issue=4|pages=502-505|pmid=PMID: 28104946|doi=10.4103/0971-3026.195790|pmc=5201082|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28104946}}</ref>


===Neonatal Period ===
=== Diffusion tensor imaging (DTI): ===
It is highly sensitive imaging technique that helps to detect small abnormal areas in the brain which are the characteristics of the brain.<ref name="pmidPMID: 32328577">{{cite journal|author=Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD|display-authors=etal|title=Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.|journal=Brain Commun|year=2020|volume=2|issue=1|pages=fcaa014|pmid=PMID: 32328577|doi=10.1093/braincomms/fcaa014|pmc=7158234|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32328577}}</ref>


When a child is born with Moebius Syndrome, there may be difficulty in closing the mouth or swallowing. The tongue may be hypotonic (low muscle tone) or faciculate (quiver). The tongue may be larger or smaller than average. There may be low tone of the muscles of the soft palate, pharynges, and the masticatory system. The palate may be arched excessively (a high palate) since the tongue does not form a suction that would normally shape the palate down further. The palate may have a groove (this may be partially due to intubation early on if it is for an extended period of time) or may be incompletely formed (cleft palate). The opening to the mouth may be small. Feeding problems may become a critical issue early on if adequate nutrition is difficult.
=== Polyhydramnios: ===
MS can sometime be diagnosed before birth through the presence of excess amniotic fluid and reduced fetal breathing movement and in this case genetic are performs<ref name="pmidPMID: 11059047">{{cite journal|author=Kuklík M|title=Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases.|journal=Acta Chir Plast|year=2000|volume=42|issue=3|pages=95-103|pmid=PMID: 11059047|doi=|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11059047}}</ref>


===Primary Dentition===
== Treatment: ==
The primary (baby) teeth generally start coming in by the first birthday and all 20 teeth may be in by the second birthday. The eruption timing varies greatly. There may be an incomplete formation of the enamel on the teeth called enamel hypoplasia that makes the teeth more vulnerable to caries (cavities). There may be missing teeth eruptions. The lower jaws become more noticeably deficient (micrognathia or retrognathia) if the infant is not closing down properly. The front teeth may not touch when the child closes down because the back teeth have overerrupted. This condition is called an anterior open bite and has facial/skeletal implications. The saliva may be thick or the infant may have a dry mouth.
MS affects multiple aspects of a patient’s health therefore a team of specialist is required to ensure that each and every problem is properly identified and treated in a well manner, minimizing the risk of worsening the patients overall health.


===Transitional Dentition===
=== Tracheostomy: ===
Between age 5 and 7 most children start losing their primary teeth. Occasionally some primary teeth are slow to exfoliate (fall out) and the dentist may want to remove a primary tooth early to prevent orthodontic problems. Likewise, premature loss of primary teeth may create orthodontic problems later on. Removable or fixed spacers may be needed to prevent the shifting of teeth when a tooth is lost prematurely. Interceptive orthodontic treatment can be initiated at this stage of development to help with crowding or to help relate the upper and lower jaws. Consistent with a high palate is a narrow arch shape of the upper teeth as they line up in the mouth. This may cause the upper front teeth to flare out and become more prone to fracture if accidentally hit. Interceptive orthodontics has an important role in this situation. Appliances that expand the upper arch tend to bring the front teeth back into a more normal position. Some appliances can even help allow the front teeth to close to normal in an open bite situation. The mouth and lips may tend to get dry with the Moebius patient. Lack of a good oral seal (lips together) allows the gingiva (gums) to get dry and may get inflamed and irritated.
Patients with MS often experience difficulty in swallowing and breathing. They may be treated with specialized diet and if necessary, a tracheostomy to resolve the breathing related issues<ref name="pmidPMID: 31488755">{{cite journal|author=Jacque D, Ossemann M, Timmermans JM, Zdanowicz N, Dubois T|title=Mobius syndrome and obsessive compulsive disorder: a case report.|journal=Psychiatr Danub|year=2019|volume=31|issue=Suppl 3|pages=376-380|pmid=PMID: 31488755|doi=|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31488755}}</ref>


===Permanent Dentition===
=== Smile surgery: ===
After the last primary tooth is lost, usually around age twelve, final orthodontic treatment can be initiated. A patient that has not been able to close or swallow well, probably will have an open bite, deficient lower jaw growth, a narrow archform with crowded teeth and upper anterior flaring of teeth. Orthognathic (jaw) surgery may be indicated. This should be completed in most situations before smile surgery where the Gracilis Muscle is grafted to the face.
In order to improve facial movement particularly the ability to smile surgery intervention may be used this involve using muscles from the leg to restore facial movement this muscle is connected to the facial nerve that help in smile<ref name="pmidPMID: 19944241">{{cite journal|author=Bianchi B, Copelli C, Ferrari S, Ferri A, Sesenna E|title=Facial animation in children with Moebius and Moebius-like syndromes.|journal=J Pediatr Surg|year=2009|volume=44|issue=11|pages=2236-42|pmid=PMID: 19944241|doi=10.1016/j.jpedsurg.2009.07.038|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19944241}}</ref>


== References ==
=== Rehabilitation techniques: ===
<references/>
FIT-SAT is a neurorehabilitation technique use special exercise that helps to improve patient’s smile this can be done at hope through audio or visual tool<ref name="pmidPMID: 30604920">{{cite journal|author=De Stefani E, Nicolini Y, Belluardo M, Ferrari PF|title=Congenital facial palsy and emotion processing: The case of Moebius syndrome.|journal=Genes Brain Behav|year=2019|volume=18|issue=1|pages=e12548|pmid=PMID: 30604920|doi=10.1111/gbb.12548|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30604920}}</ref>


== External links ==  
=== Tarsorrhaphy: ===
* [http://goldbamboo.com/topic-t3369-moebius_syndrome.html Moebius Syndrome Information]
MS patients often experience issues with eye and it surrounding such as an inability to close the eyelids completely, which can lead to dry eyes, [[ulcers]] and infections usually this condition is treated with the lubricanmts but surgery is also offered to improve eyelid movement a small gold weight placed in the upper eyelid and sometime muscle graph is also use useful to close the eyelid and issue with the lower eyelid is resolved through [[tarsorrhaphy]]
* [http://www.moebiussyndrome.com Moebius Syndrome Foundation & International Conference Information]
* [http://brain.hastypastry.net/forums/forumdisplay.php?f=190 Moebius Syndrome Forum in Braintalk Communities]


{{Phakomatoses and other congenital malformations not elsewhere classified}}
=== Botulinum Toxin Injections: ===
{{SIB}}
To prevent muscle tightening and eye alignment [[botox]] is used in eye muscles to help with eye movement affected by nerve palsy.
[[Category:Neurological disorders]]
[[Category:Syndromes]]


[[de:Moebius-Syndrom]]
=== Surgical option for eye alignment: ===
[[es:Síndrome de Moebius]]
Treatment options include Medial Rectus Recession, Lateral Rectus Resection, Muscle Transposition and Double-Augmented Vertical Recti Transposition are helpful to improve eye movement and alignment <ref name="pmidPMID: 30958093">{{cite journal|author=Lueder GT, Galli M|title=Long-term outcomes of strabismus surgery in Mobius sequence.|journal=Strabismus|year=2019|volume=27|issue=2|pages=43-46|pmid=PMID: 30958093|doi=10.1080/09273972.2019.1599402|pmc=|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30958093}}</ref>
[[fr:Syndrome de Möbius]]
[[nl:Syndroom van Moebius]]
[[ja:メビウス症候群]]
[[pl:Zespół Möbiusa]]
[[pt:Síndrome de Moebius]]
 
{{WH}}
{{WikiDoc Sources}}

Latest revision as of 04:49, 5 October 2024

Historical Perspective:

Moebius syndrome (MS) is a rare congenital neurological condition that affects the muscle in the face and eye from birth. patients of this disease face problem in mouth moment including smiling, chewing and eye moment is also affected particularly sideways eye moments, except these facial issues problems with other body parts is also observed. A. Von Graefe, describe the first case of MS later detailed report about the condition and name was put forward by Paul Julius Moebius in 1888[1]

Pathophysiology:

Patients with MS shows symptoms of paralysis of that facial nerve (CN VII) in about 96% of cases leading difficulties with facial movement such as swallowing, sucking, speaking and making facial expressions . Additionally eye movement nerve paralysis (CN VI) in approximatel85% of the cases resulting in problem with eye movement, dry eyes and various patterns of eyes abnormalities are observed that can help in understanding the physiological type of nerve damage. MS can cause with bone and muscular issues like club foot, fuse fingers and toes curved spines condition like kyphosis and and scoliosis[2]The exact pathophysiology of the disease is not clear; theories suggest that both genetic and environmental factors may contribute to the development of the diseases affecting the baby before birth. It is considered that around the sixth week of pregnancy, the fetus may not receive enough oxygen supply to the brain-stem, possibly and this due to blood flow problem in sub-clavian artery such as blood clot or narrowing of vessels. This may be linked to the used of certain drugs during pregnancy like misoprostolor or cocaine. The abnormal flow of blood could affect parts of the brain causing tissue damage, scarring and calcium buildup. However, the specific impact of blood flow on the sub-clavian artery and its effect on the facial and abducens nerves in MS is not fully understood [3].Other factor that could contribute to this disease is genetic it has been suggest that MS may be linked to abnormalities in two specific loci of chromosomes 3 and 10 and some cases of MS shows de-novo mutation in gene associated with the facial muscle weakness such as REV3L and PLXND1 [4].Other less common gene implicated in MS includes HOXA1, HOXB1, and TUBB3, In very few cases diseases appear to be inherited passed down from generation to generation.[5]

Causes:

Due to multifaceted manifestation of the disease it is difficult to find out the exact cause of the disease however, some studies suggest some potential causes that mainly include genetic factor and Ischemic & Embryonic origin.

Genetic cause:

Some studies suggest that changes in certain genes are associated with MS these include PLXND1 and REV3L as well as homeobox genes such as HOXA1, HOXB1, and SOX14 which are found at certain area of chromosomes that are linked to the disease. These genes are responsible of development of facial and brain structures. Mostly MS cases are sporadic but there are some cases where it seems to run in families.[6]

Ischemic & Embryonic Basis:

Some researchers believe that MS may be caused by issues during early fatal development, hypothesis suggest that abnormal blood flow or lack of blood flow to specific part of the body of developing fetus could be the key feature of the diseases that can lead to the MS[7].

Other Causes:

Some harmful substance such as teratogens like alcohol, cocaine and ergotamine as well as the drug thalidomide, misoprostol are the cause of the disease and in rare cases there is some consideration of linked between reproductive technologies and Moebius syndrome, a study suggest that as unusually shaped uterus of the mother like a unicornuate or bicornuate uterus may also linked to the diseases.[8]

Epidemiology and Demographics :[9]

A recent survey of the diseases suggests that about 0.3 out of every 100,000 babies are born

with MS.

Gender:

There is no difference of incidence among male and female.

Race:

No difference of diseases is observed in races.

Diagnosis:

To differentiate MS from other diseases various tests and imaging techniques are performed that help in diagnosis including electromyography (EMG), nerve conduction studies (NCS), ultrasound, MRI, genetic testing

EMG and NCS:

These tests help to distinguish diseases from other facial conditions that resembles to MS. [10]

MRI:

It is helpful to find the clear image of cranial nerve and related structures revealing the absence of facial and abducens nerves which are the key sign of the MS Additionally other findings include an underdeveloped brain stem characterized by flattened floor of the fourth ventricle, calcification in the pons (specifically where the sixth cranial nerve nuclei are located), absence of normal structure of medulla and an underdeveloped cerebellum. These abnormalities in the brain stem, such as pons and medulla support the diagnosis of MS.[11]

Diffusion tensor imaging (DTI):

It is highly sensitive imaging technique that helps to detect small abnormal areas in the brain which are the characteristics of the brain.[12]

Polyhydramnios:

MS can sometime be diagnosed before birth through the presence of excess amniotic fluid and reduced fetal breathing movement and in this case genetic are performs[13]

Treatment:

MS affects multiple aspects of a patient’s health therefore a team of specialist is required to ensure that each and every problem is properly identified and treated in a well manner, minimizing the risk of worsening the patients overall health.

Tracheostomy:

Patients with MS often experience difficulty in swallowing and breathing. They may be treated with specialized diet and if necessary, a tracheostomy to resolve the breathing related issues[14]

Smile surgery:

In order to improve facial movement particularly the ability to smile surgery intervention may be used this involve using muscles from the leg to restore facial movement this muscle is connected to the facial nerve that help in smile[15]

Rehabilitation techniques:

FIT-SAT is a neurorehabilitation technique use special exercise that helps to improve patient’s smile this can be done at hope through audio or visual tool[16]

Tarsorrhaphy:

MS patients often experience issues with eye and it surrounding such as an inability to close the eyelids completely, which can lead to dry eyes, ulcers and infections usually this condition is treated with the lubricanmts but surgery is also offered to improve eyelid movement a small gold weight placed in the upper eyelid and sometime muscle graph is also use useful to close the eyelid and issue with the lower eyelid is resolved through tarsorrhaphy

Botulinum Toxin Injections:

To prevent muscle tightening and eye alignment botox is used in eye muscles to help with eye movement affected by nerve palsy.

Surgical option for eye alignment:

Treatment options include Medial Rectus Recession, Lateral Rectus Resection, Muscle Transposition and Double-Augmented Vertical Recti Transposition are helpful to improve eye movement and alignment [17]

  1. ↑ Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M; et al. (2023). dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=37868706 "Moebius Syndrome: An Updated Review of Literature" Check |url= value (help). Child Neurol Open. 10: 2329048X231205405. doi:10.1177/2329048X231205405. PMC 10588417 Check |pmc= value (help). PMID 37868706 PMID: 37868706 Check |pmid= value (help).
  2. ↑ Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F; et al. (2016). "Moebius syndrome: clinical features, diagnosis, management and early intervention". Ital J Pediatr. 42 (1): 56. doi:10.1186/s13052-016-0256-5. PMC 4893276. PMID 27260152. PMID: 27260152. Check |pmid= value (help).
  3. ↑ Trilla M, Cano JF (1992). "[Diabetes mellitus and primary care: The Saint Vincent's Declaration]". Aten Primaria. 9 (9): 469–70. PMID 1525305 PMID: 1525305 Check |pmid= value (help).
  4. ↑ Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B; et al. (2017). "Moebius sequence -a multidisciplinary clinical approach". Orphanet J Rare Dis. 12 (1): 4. doi:10.1186/s13023-016-0559-z. PMC 5217236. PMID 28061881 PMID: 28061881 Check |pmid= value (help).
  5. ↑ Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W; et al. (2010). "Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance". Cell. 140 (1): 74–87. doi:10.1016/j.cell.2009.12.011. PMC 3164117. PMID 20074521 PMID: 20074521 Check |pmid= value (help).
  6. ↑ De Stefani E, Nicolini Y, Belluardo M, Ferrari PF (2019). "Congenital facial palsy and emotion processing: The case of Moebius syndrome". Genes Brain Behav. 18 (1): e12548. doi:10.1111/gbb.12548. PMID 30604920 PMID: 30604920 Check |pmid= value (help).
  7. ↑ Bavinck JN, Weaver DD (1986). "Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies". Am J Med Genet. 23 (4): 903–18. doi:10.1002/ajmg.1320230405. PMID 3008556 PMID: 3008556 Check |pmid= value (help).
  8. ↑ Miller MT, Ventura L, Strömland K (2009). "Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected". Birth Defects Res A Clin Mol Teratol. 85 (8): 667–76. doi:10.1002/bdra.20609. PMID 19639653 PMID: 19639653 Check |pmid= value (help).
  9. ↑ Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M; et al. (2023). "Moebius Syndrome: An Updated Review of Literature". Child Neurol Open. 10: 2329048X231205405. doi:10.1177/2329048X231205405. PMC 10588417 Check |pmc= value (help). PMID 37868706 PMID: 37868706 Check |pmid= value (help).
  10. ↑ Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A; et al. (2021). "Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies". Muscle Nerve. 63 (4): 516–524. doi:10.1002/mus.27159. PMC 8353595 Check |pmc= value (help). PMID 33389762 PMID: 33389762 Check |pmid= value (help).
  11. ↑ Srinivas MR, Vaishali DM, Vedaraju KS, Nagaraj BR (2016). "Mobious syndrome: MR findings". Indian J Radiol Imaging. 26 (4): 502–505. doi:10.4103/0971-3026.195790. PMC 5201082. PMID 28104946 PMID: 28104946 Check |pmid= value (help).
  12. ↑ Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD; et al. (2020). "Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry". Brain Commun. 2 (1): fcaa014. doi:10.1093/braincomms/fcaa014. PMC 7158234 Check |pmc= value (help). PMID 32328577 PMID: 32328577 Check |pmid= value (help).
  13. ↑ Kuklík M (2000). "Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases". Acta Chir Plast. 42 (3): 95–103. PMID 11059047 PMID: 11059047 Check |pmid= value (help).
  14. ↑ Jacque D, Ossemann M, Timmermans JM, Zdanowicz N, Dubois T (2019). "Mobius syndrome and obsessive compulsive disorder: a case report". Psychiatr Danub. 31 (Suppl 3): 376–380. PMID 31488755 PMID: 31488755 Check |pmid= value (help).
  15. ↑ Bianchi B, Copelli C, Ferrari S, Ferri A, Sesenna E (2009). "Facial animation in children with Moebius and Moebius-like syndromes". J Pediatr Surg. 44 (11): 2236–42. doi:10.1016/j.jpedsurg.2009.07.038. PMID 19944241 PMID: 19944241 Check |pmid= value (help).
  16. ↑ De Stefani E, Nicolini Y, Belluardo M, Ferrari PF (2019). "Congenital facial palsy and emotion processing: The case of Moebius syndrome". Genes Brain Behav. 18 (1): e12548. doi:10.1111/gbb.12548. PMID 30604920 PMID: 30604920 Check |pmid= value (help).
  17. ↑ Lueder GT, Galli M (2019). "Long-term outcomes of strabismus surgery in Mobius sequence". Strabismus. 27 (2): 43–46. doi:10.1080/09273972.2019.1599402. PMID 30958093 PMID: 30958093 Check |pmid= value (help).
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