Content deleted Content added
m fix double redir |
←Removed redirect to Möbius syndrome Tags: Removed redirect Reverted |
||
Line 1:
{{Infobox medical condition (new)
| name = Möebius syndrome
| synonyms = '''Moebius'''
| image = Infant_with_Möbius_syndrome.jpg
| image_size = 230px
| caption = A child with oromandibular-limb hypogenesis-Möebius syndrome. Notice the expressionless face (due to bilateral VII nerve palsies) and missing fingers.
| pronounce =
| field =
| symptoms =
| complications =
| onset =
| duration =
| types =
| causes =
| risks =
| diagnosis =
| differential =
| prevention =
| treatment =
| medication =
| prognosis =
| frequency =
| deaths =
}}
'''Mobius syndrome''', also known as Möebius syndrome is a rare congenital neurological disorder which is characterized by [[facial nerve paralysis|facial paralysis]] and the inability to move the eyes from side to side. Most people with Möebius syndrome are born with complete facial [[paralysis]] and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. People with Möebius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for [[Paul Julius Möbius]], a German neurologist who first described the syndrome in 1888.<ref>{{cite journal |author=Möbius, P. J. |title=Ueber angeborene doppelseitige Abducens-Facialis-Lahmung |journal=Münchener Medizinische Wochenschrift |volume=35 |pages=91–4 |year=1888 }}</ref> In 1994, the "Moebius Syndrome Foundation" was founded, and later that year the first "Moebius Syndrome Foundation Conference" was held in Los Angeles.<ref>{{cite web |title=Mission and History |url=https://moebiussyndrome.org/who-we-are/mission-and-history/ |website=Moebius Syndrome Foundation |access-date=29 August 2021}}</ref> A charity for Möebius syndrome was set up and registered in the UK in 1999 by Linda Anderson from Tyne and Wear, whose son had been born with the condition in 1980. She campaigned for many years, held conferences and gave medical speeches in America before she had to step away from the charity because of ill health.{{Citation needed|date=June 2021}}
==Signs and symptoms==
[[File:Haebig, Ana Maria -FILSA 2015 10 28 fRF04 (cropped).JPG|210px|thumb|right|Chilean writer Ana María Haebig has Moebius Syndrome]]
People with Möebius syndrome are born with facial paralysis and the inability to move their eyes laterally. Often, their upper lip is retracted due to muscle shrinkage.<ref name="pmid17210070">{{cite journal |vauthors=Al Kaissi A, Grill F, Safi H, Ben Ghachem M, Ben Chehida F, Klaushofer K |title=Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome |journal=Orphanet J Rare Dis |volume=2 |pages=2 |year=2007 |pmid=17210070 |pmc=1774563 |doi=10.1186/1750-1172-2-2 }}</ref> Occasionally, the cranial nerves [[Trigeminal nerve|V]] and [[Vestibulocochlear nerve|VIII]] are affected.<ref name=Briegel06/> If cranial nerve VIII is affected, the person experiences hearing loss.{{cn|date=August 2021}}
Other symptoms that sometimes occur with Möebius syndrome are:{{cn|date=December 2020}}
* Limb abnormalities—[[clubbed feet]], [[Oligodactyly|missing fingers or toes]]
* Chest-wall abnormalities ([[Poland syndrome]])
* Crossed eyes ([[strabismus]])
* Difficulty in breathing and/or in swallowing
* [[Corneal erosion]] resulting from difficulty in blinking
Children with Möebius syndrome may have delayed speech because of paralysis of muscles that move the lips, soft palate and tongue root. However, with speech therapy, most people with Möebius syndrome can develop understandable speech.<ref>{{cite journal |vauthors=Meyerson MD, Foushee DR |title=Speech, language and hearing in Moebius syndrome: a study of 22 patients |journal=Dev Med Child Neurol |volume=20 |issue=3 |pages=357–65 |date=June 1978 |pmid=208901 |doi=10.1111/j.1469-8749.1978.tb15225.x|s2cid=37193422 }}</ref> Möebius syndrome has been associated with increased occurrence of the symptoms of [[autism]].<ref name="pmid2929356">{{cite journal |vauthors=Gillberg C, Steffenburg S |title=Autistic behaviour in Moebius syndrome |journal=Acta Paediatr Scand |volume=78 |issue=2 |pages=314–6 |date=March 1989 |pmid=2929356 |doi= 10.1111/j.1651-2227.1989.tb11076.x|s2cid=8838366 }}</ref> Some children with Möebius syndrome are mistakenly labeled as [[intellectual disability|intellectually disabled]] because of their expressionless faces, [[strabismus]] and frequent drooling.{{citation needed|date=July 2017}}
===Social and lifestyle effects===
Möebius syndrome does not prevent individuals from experiencing personal and professional success.<ref>{{cite journal |author=Meyerson MD |title=Resiliency and success in adults with Moebius syndrome |journal=Cleft Palate Craniofac. J. |volume=38 |issue=3 |pages=231–5 |date=May 2001 |pmid=11386430 |doi=10.1597/1545-1569(2001)038<0231:RASIAW>2.0.CO;2 }}</ref> Due to the importance of facial expression and smiling in social interaction, the inability to form either can lead to individuals with Möebius being perceived as unhappy, unfriendly or uninterested in conversations.<ref>{{cite journal|last=Bogart|first=Kathleen|title="People are all about appearances": A Focus group of teenagers with Moebius syndrome|journal=Journal of Health Psychology|volume=20|issue=12|pages=1579–1588|date=2014|doi=10.1177/1359105313517277|pmid=24423573|s2cid=44798802}}</ref> Individuals who are familiar with Möebius patients such as family or friends can recognize other signals of emotion such as body language, to the point that they sometimes report forgetting that the person has facial paralysis.<ref>{{cite journal |vauthors=Goldblatt D, Williams D |title="I an sniling!": Möebius' syndrome inside and out |journal=J. Child Neurol. |volume=1 |issue=1 |pages=71–8 |date=January 1986 |pmid=3298396 |doi=10.1177/088307388600100114|s2cid=41054346 |url=https://www.semanticscholar.org/paper/b61448e651ed390ab6fb19460cb9cfde2fc80e71 }}</ref> Indeed, people with Möebius syndrome are often adept at compensating for a lack of expression by using body language, posture, and vocal tone to convey emotion.<ref>{{cite journal|last=Bogart|first=Kathleen|author2=Linda Tickle-Degnen |author3=Nalini Ambady |title=Compensatory expressive behavior for facial paralysis: Adaptation to congenital or acquired disability|journal=Rehabilitation Psychology|date=2012|volume=57|issue=1|pages=43–51|doi=10.1037/a0026904|pmid=22369116|pmc=4576912}}</ref>
==Pathogenesis==
Möebius syndrome results from the underdevelopment of the [[Abducens nerve|VI]] and [[Facial nerve|VII]] [[cranial nerves]].<ref name=Briegel06>{{cite journal |author=Briegel W |title=Neuropsychiatric findings of Möebius sequence — a review |journal=Clin. Genet. |volume=70 |issue=2 |pages=91–7 |date=August 2006 |pmid=16879188 |doi=10.1111/j.1399-0004.2006.00649.x |s2cid=9916694 }}</ref> The VI cranial nerve controls lateral eye movement, and the VII cranial nerve controls facial expression.{{cn|date=November 2020}}
The causes of Möebius syndrome are poorly understood. It is thought to result from a vascular disruption (temporary loss of bloodflow) in the brain during prenatal development.<ref name=Briegel06/> There can be many reasons for vascular disruption leading to Möebius syndrome. Most cases do not appear to be genetic. However, genetic links have been found in a few families. Some maternal trauma may result in impaired or interrupted blood flow ([[ischemia]]) or lack of oxygen ([[Hypoxia (medical)|hypoxia]]) to a developing fetus. Some cases are associated with reciprocal translocation between [[chromosome]]s or maternal illness. In the majority of cases of Möebius syndrome in which autosomal dominant inheritance is suspected, sixth and seventh cranial nerve paralysis (palsy) occurs without associated limb abnormalities.{{cn|date=November 2020}}
The use of [[medication|drugs]] and a traumatic [[pregnancy]] may also be linked to the development of Möebius syndrome. The use of the drugs [[misoprostol]] or [[thalidomide]] by women during pregnancy has been linked to the development of Möebius syndrome in some cases. Misoprostol is used to induce abortions in Brazil and Argentina as well as in the United States. Misoprostol abortions are successful 90% of the time, meaning that 10% of the time the pregnancy continues. Studies show that the use of misoprostal during pregnancy increases the risk of developing Möebius syndrome by a factor of 30. While this is a dramatic increase in risk, the incidence of Möebius syndrome without misoprostal use is estimated at one in 50000 to 100000 births (making the incidence of Möebius syndrome with misoprostol use, less than one in 1000 births).<ref>{{cite journal |vauthors=Koren G, Schuler L |title=Taking drugs during pregnancy. How safe are the unsafe? |journal=Can Fam Physician |volume=47 |pages=951–3 |date=May 2001 |pmid=11398725 |pmc=2018504 |url=http://www.cfp.ca/cgi/pmidlookup?view=long&pmid=11398725}}</ref><ref name="pmid9637807">{{cite journal |author=Pastuszak AP |title= Use of Misoprostol during pregnancy and Möbius' syndrome in infants |journal=N Engl J Med |year=1998 |issue=26 |pages=1881–5 |pmid=9637807 |volume=338 |doi=10.1056/NEJM199806253382604 |name-list-style=vanc|author2=Schuller L |author3=Speck-Martins CF |author4=Coelho KE |author5=Cordello SM |author6=Vargas F |display-authors=6 |last7=Brunoni |first7=Decio |last8=Schwarz |first8=Ida V.D. |last9=Larrandaburu |first9=Mariela|doi-access=free }}</ref> The use of [[cocaine]] (which also has vascular effects) has been implicated in Möebius syndrome.<ref name="pmid15797189">{{cite journal |vauthors=Puvabanditsin S, Garrow E, Augustin G, Titapiwatanakul R, Kuniyoshi KM |title=Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology |journal=Pediatr. Neurol. |volume=32 |issue=4 |pages=285–7 |date=April 2005 |pmid=15797189 |doi=10.1016/j.pediatrneurol.2004.11.011 }}</ref>
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 Möebius syndrome may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system.{{cn|date=November 2020}}
===Oral/dental concerns===
[[Image:MRI of head of Möbius syndrome patient.jpg|right|thumb|Sagittal [[magnetic resonance imaging]] scan showing a markedly underdeveloped ([[hypoplasia|hypoplastic]]) tongue]]
====Neonatal====
When a child is born with Möebius syndrome, there may be difficulty in closing the mouth or swallowing. The tongue may [[Fasciculation|fasciculate]] (quiver) or be [[Hypotonia|hypotonic]] (low muscle tone). The tongue may be larger or smaller than average. There may be low tone of the muscles of the [[soft palate]], [[pharynx]], and the [[mastication|masticatory system]]. The palate may be arched excessively (a high palate), because 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 [[cleft palate|cleft]] (incompletely formed). The opening to the mouth may be small. Feeding problems may become a critical issue early on if adequate nutrition is difficult.{{cn|date=November 2020}}
====Primary dentition====
The [[deciduous teeth|primary]] (baby) teeth generally start coming in by 6 months of age, and all 20 teeth may be in by two and a half years of age. The [[tooth eruption|eruption]] timing varies greatly. There may be an incomplete formation of the [[tooth enamel|enamel]] on the teeth (enamel [[hypoplasia]]) that makes the teeth more vulnerable to caries (cavities). There may be missing teeth eruptions. If the infant is not closing down properly, the lower jaws become more noticeably deficient ([[micrognathia]] or [[retrognathia]]). The front teeth may not touch when the child closes down because the back teeth have overerrupted or because of incomplete formation of the maxilla. 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.{{citation needed|date=July 2017}}
====Transitional dentition====
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. When a tooth is lost prematurely, removable or fixed [[orthodontic spacer|spacers]] may be needed to prevent the shifting of teeth. 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 Möebius patient. Lack of a good oral seal (lips together) allows the [[gingiva]] (gums) to get dry and may get inflamed and irritated.{{cn|date=November 2020}}
====Permanent dentition====
After the last primary tooth is lost, usually around the age of 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 surgery|Orthognathic]] (jaw) surgery may be indicated. This should be completed in most situations before the [[smile surgery]] where the [[gracilis muscle]] is grafted to the face.{{cn|date=December 2020}}
Genetic links to 13q12.2<ref name="pmid1870098">{{cite journal |vauthors=Slee JJ, Smart RD, Viljoen DL |title=Deletion of chromosome 13 in Moebius syndrome |journal=J. Med. Genet. |volume=28 |issue=6 |pages=413–414 |date=June 1991 |pmid=1870098 |pmc=1016909 |doi= 10.1136/jmg.28.6.413}}</ref> and 1p22<ref name="pmid9112001">{{cite journal |vauthors=Nishikawa M, Ichiyama T, Hayashi T, Furukawa S |title=Möbius-like syndrome associated with a 1;2 chromosome translocation |journal=Clin. Genet. |volume=51 |issue=2 |pages=122–123 |date=February 1997 |pmid=9112001 |doi= 10.1111/j.1399-0004.1997.tb02433.x|s2cid=13234569 }}</ref> have been suggested.
==Diagnosis==
Diagnosis is typically made by the physical characteristics and symptoms, patient history and a thorough clinical evaluation. There is no specific diagnostic test that confirms Möebius syndrome. Some specialised tests may be carried out to rule out other causes of [[facial palsy]].<ref>{{Cite news|url=https://rarediseases.org/rare-diseases/moebius-syndrome/|title=Moebius Syndrome - NORD (National Organization for Rare Disorders)|work=NORD (National Organization for Rare Disorders)|access-date=2018-03-16|language=en-US}}</ref>
==Treatment==
There is no single course of medical treatment or cure for Möebius syndrome. Treatment is supportive and in accordance with symptoms. If they have difficulty nursing, infants may require feeding tubes or special bottles to maintain sufficient nutrition. Physical, occupational, and speech therapy can improve motor skills and coordination and can lead to better control of speaking and eating abilities. Often, frequent lubrication with eye drops is sufficient to combat dry eye that results from impaired blinking. Surgery can correct crossed eyes, protect the [[cornea]] via [[tarsorraphy]], and improve limb and jaw deformities. Sometimes called [[smile surgery]] by the media, muscle transfers grafted from the thigh to the corners of the mouth can be performed to provide the ability to smile. Although "smile surgery" may provide the ability to smile, the procedure is complex and can take twelve hours for each side of the face. Also, the surgery cannot be considered a "cure" for Möebius syndrome, because it does not improve the ability to form other facial expressions.{{cn|date=November 2020}}
==Epidemiology==
It is estimated that there are, on average, 2 to 20 cases of Möebius syndrome per million births.<ref>{{cite journal |author=Kuklík M |title=Poland-Möebius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases |journal=Acta Chir Plast |volume=42 |issue=3 |pages=95–103 |year=2000 |pmid=11059047 }}</ref><ref>{{cite journal |vauthors=Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW |title=Möebius syndrome redefined: a syndrome of rhombencephalic maldevelopment |journal=Neurology |volume=61 |issue=3 |pages=327–33 |date=August 2003 |pmid=12913192 |doi=10.1212/01.wnl.0000076484.91275.cd|s2cid=25077109 }}</ref> Although its rarity often leads to late diagnosis, infants with this disorder can be identified at birth by a "mask-like" lack of expression that is detectable during crying or laughing and by an inability to suck while nursing because of [[paresis]] (palsy) of the sixth and seventh cranial nerves. Also, because a person with Möebius syndrome cannot follow objects by moving their eyes from side to side, they turn their head instead.{{cn|date=December 2020}}
==Society and culture ==
Literature and media with mentions of Möebius syndrome include:{{Citation needed|date=July 2019}}
* The protagonist of the novel ''Painted'' by Eliza Wyatt and Christian Leffler has Möebius syndrome.
* In the [[Scream Queens (season 2)|second season]] of ''[[Scream Queens (2015 TV series)|Scream Queens]]'', Daira Janessen ([[Riley McKenna Weinstein]]), also known as Chanel 8, has Möebius syndrome.
* In the first season of American medical drama ''[[The Good Doctor (TV series)|The Good Doctor]]'', a teenage patient is depicted with Möebius syndrome.
* In the [[BBC]] TV series ''Face'', Loraine Deveney, a Möebius syndrome patient, was portrayed as a successful example of "smile surgery" performed by R. M. Zuker, M.D.
* The German TV series ''[[Dr. Stefan Frank – Der Arzt, dem die Frauen vertrauen|Dr. Stefan Frank]]'' episode "Ein himmlisches Lächeln" (season 4, episode 4) is about a young boy living with Möebius syndrome.
* The book "Secret Weapon" of the Alex Rider series gives a mention to Darcus Drake, a man with Möebius syndrome.
* In “The Adventure of the Man Who Never Laughed”, a story written by John H. Watson, M.D./discovered by J. N. Williamson, and collected in ''Holmes For The Holidays'', edited by Martin H. Greenberg, Jon L. Lellenberg and Carol-Lynn Waugh (Berkley Prime Crime, 1996), a missing person has Möebius syndrome.
* In the sixteenth season of ''[[Grey's Anatomy]]'', a patient presents with Möebius syndrome.
== References ==
{{Reflist}}
== External links ==
{{Medical resources
| DiseasesDB = 31978
| ICD10 = {{ICD10|Q|87|0|q|80}}
| ICD9 = {{ICD9|352.6}}
| ICDO =
| OMIM = 157900
| MedlinePlus =
| eMedicineSubj = neuro
| eMedicineTopic = 612
| MeshID = D020331
}}
* {{dmoz|Health/Conditions_and_Diseases/Neurological_Disorders/Mobius_Syndrome/}}
* [https://web.archive.org/web/20161202231904/http://www.ninds.nih.gov/disorders/mobius/moebius.htm Möbius syndrome] at the [[National Institute of Neurological Disorders and Stroke]]
{{Phakomatoses and other congenital malformations not elsewhere classified}}
{{DEFAULTSORT:Mobius Syndrome}}
[[Category:Neurological disorders]]
[[Category:Syndromes affecting the eye]]
[[Category:Genetic disorders with OMIM but no gene]]
[[Category:Rare syndromes]]
[[Category:Syndromes affecting the nervous system]]
| |||