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Möbius syndrome

This is part of Rare diseases.

Diagnosis: Möbius syndrome

Synonyms: Moebius syndrome, Möbius sequence

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Publication date: 2012-06-05
Version: 3.2

ICD 10 code

Q87.0

The disease

Möbius syndrome is characterised by a weakening or paralysis of the muscle that controls lateral eye movements and also certain facial muscles. Individuals with the syndrome have an impaired ability to produce facial expressions, and they squint when looking to the side. The syndrome may also include orthopaedic abnormalities, intellectual disability and autism.

The disorder is named after German physician Paul Julius Möbius, who described the condition in 1888. Today it is also known as Möbius sequence, a more accurate description of the disorder. A sequence arises from a single developmental defect that results in a chain of secondary defects, while a syndrome has one single cause that can give rise to various developmental defects.

Occurrence

The incidence of Möbius syndrome in Sweden is currently unknown, but to date approximately 50 Swedish individuals have been diagnosed with the condition.

Cause

In the majority of cases, Möbius syndrome appears sporadically, meaning that it occurs in a single individual in a family, with no signs of heredity and with no known aetiology.

There are indications that a disruption in the development of cranial nerves early in pregnancy may cause the disorder. There are twelve cranial nerves in the human body, and most of them control functions of the face, eyes, tongue, palate, and throat. These nerves are in direct contact with the brain, and most originate in nuclei in the brain stem. Möbius syndrome results from a weakening or paralysis of the muscles controlled by cranial nerves VI and VII (Nervus abducens and Nervus facialis). The nuclei of these two cranial nerves are located in the same region of the brain stem, and they both begin to develop at an early prenatal stage.

In recent years there have been reports that women who took a particular ulcer medication containing misoprostol during the first trimester have given birth to children with Möbius syndrome. Also, individuals with thalidomide embryopathy have been diagnosed with defects similar to Möbius syndrome.

Heredity

It is rare for more than one member of a family to have Möbius syndrome, but there are a few cases of family recurrence, where the cause is likely to be hereditary. Usually, however, the syndrome has no known cause.

Symptoms

Although there is great variation in symptoms and degree of severity, individuals with Möbius syndrome always have weak or paralysed ocular and facial muscles on one or both sides. The muscles involved are those that govern lateral eye movements, which are controlled by cranial nerve VI (Nervus abducens), and the muscles producing facial expressions, which are controlled by cranial nerve VII (Nervus facialis). Cranial nerves IX (Nervus glossopharyngeus) and XII (Nervus hypoglossus) may also be affected, leading to impaired throat and tongue function, and difficulties in eating and speaking. Other possible symptoms include skeletal deformities of the arms, legs, hands, and feet. Intellectual disability and autism may also occur.

Owing to the paralysis of the lateral eye muscle, the eye is unable to move outwards, which causes squinting (strabismus) a reduced visual field when looking to the side. This paralysis may affect one or both eyes, and other forms of squinting may also occur. Visual acuity is usually not affected.

Facial paralysis always affects facial expression, and usually also articulation. Facial expression is wholly or partly inhibited depending on whether the paralysis is unilateral or bilateral. This absence of facial expression may cause problems with social interaction. The parents of a child with Möbius syndrome sometimes have difficulties interpreting the child’s needs, and later in life the blank facial expression can be misunderstood as lack of response or emotions.

When lip function is impaired, the pronunciation of labial sounds (m, b, p, f, and v) is affected. Inability to close the lips often results in difficulties in sucking or eating from a spoon or a fork, and food and drink can easily drip out at the corners of the mouth. Because of the facial paralysis it is common that individuals with Möbius syndrome cannot close their eyes properly, which may cause problems with dry or watery eyes, especially when the weather is cold or windy.

Tongue mobility is affected to varying extents, and the tongue may also have an unusual shape. Reduced tongue function can lead to difficulties with speech (dysarthria). Impaired tongue mobility may also cause problems sucking, chewing, and swallowing. The mild drooling that sometimes occurs is associated with difficulties in closing the lips and problems in using the tongue to help swallow saliva.

Some children with Möbius syndrome are born with a cleft palate. The hard palate meets the soft palate at the back of the mouth. The function of the soft palate is to close off the throat from the nasal cavity when swallowing or speaking. If the soft palate is unable to close properly, speech will sound nasal. Cleft palate and reduced soft palate mobility also result in sucking difficulties and an increased risk of food and drink coming up through the nose while feeding. Individuals with cleft palate are more vulnerable to ear infections and catarrhs, because the cleft palate affects the function of the Eustachian tube, resulting in poor ventilation of the middle ear.

The teeth may be crowded, owing to the small size of the lower jaw.
Malocclusions (bite disorders) are common, and teeth may be missing. The reduction in muscular activity of the mouth results in less natural self-cleaning of the teeth, which increases the risk of caries and gingivitis.

Less than half of all individuals with Möbius syndrome also have orthopaedic symptoms. Foot deformities, particularly clubfoot and webbed toes, are common. Webbed fingers also occur, and sometimes the fingers are smaller and shorter than normal. A less common symptom is underdevelopment of the chest musculature known, in combination with hand deformities on the same side, as Poland anomaly.

Most individuals with Möbius syndrome have normal intellectual capacity, although lack of facial expression, articulation difficulties, and delayed motor development may be misinterpreted by others as signs of intellectual deficiency. In some cases, however, the disorder is associated with mild, moderate, or severe intellectual disability, resulting in delayed language development and delayed development of gross and fine motor skills.

To date, very little research has been done on behavioural anomalies in individuals with Möbius syndrome. In a Swedish survey, autism spectrum disorders were found to occur in approximately one third of the 25 cases studied. Symptoms of autism include:

  • Qualitative impairment in social interaction, including failure to understand other people’s emotions and perspectives.
  • Linguistic and non-linguistic communication difficulties. Impaired verbal communication may manifest as poorly developed speech (half of all people with autism do not use spoken language to communicate), idiosyncratic language, or echolalia (the repetition of words or phrases used by others). Impaired non-verbal communication involves difficulties in making eye contact, or lack of gestures or facial expressions.
  • Limited imagination, restricted or repetitive patterns of play, behaviour and interests. Stereotyped gestures and repetitive activities.

Diagnosis

Sucking and swallowing difficulties, problems with closing the eyes, facial asymmetry, impaired facial expression, and inability to look to the side are symptoms making it possible to diagnose Möbius syndrome in the newborn period. Other signs sometimes seen in newborns include hand and foot deformities and abnormally thin chest musculature.

Additional examinations such as CAT scan or MRI of the brain and brain stem may be needed in order to confirm the diagnosis.

Treatment/interventions

There is no cure for Möbius syndrome, but symptoms may be treated and special support measures can be taken on the basis of each individual’s needs.

All interventions should be adapted to suit the age and lifestyle of the individual.
Cooperation between many different specialists is required both to diagnose and to treat the disorder. For children with the disease it is important that monitoring and treatment are coordinated by a paediatrician or a paediatric neurologist who has an overview of the child’s condition. The team treating the child may also include specialists in paediatric neuropsychiatry, speech pathology, psychology, orthopaedics, dentistry, ophthalmology, and otology.

The strabismus usually does not require any treatment, as squinting rarely occurs when looking straight ahead. Surgery to improve the child’s ability to look to the side may be tried but might not give satisfactory results owing to the paralysis of the muscles. In cases with other types of squinting, however, surgery is a viable option. Difficulties with closing the eyes usually do not require surgery. Moisturising cream or drops may be useful to prevent the eyes from drying out.

Cleft palate is subject to early surgical intervention, usually before 12 months of age. Plastic surgery clinics have special multi-disciplinary teams (craniofacial teams and cleft teams) with established routines for follow up and treatment of children with cleft lip, jaw or palate. There is an increased risk of recurrent ear infection or ear catarrh when the child has a cleft palate. Regular appointments with an ear-nose-throat specialist are recommended to prevent persistent ear problems.

Children with cleft palate or impaired tongue mobility usually cannot be breastfed, and may need a special feeding bottle during infancy. If the child does not suck efficiently, it may be helpful to use a special soft feeding bottle that can be pumped in time with the baby’s suck-swallow sequence. When spoon feeding, it is important to wait for the child’s own initiative in taking the food from the spoon. A plastic spoon should be used to protect the tooth enamel. Early contact with a speech therapist is essential in order to design an exercise programme for the oral musculature, and for practising speech, language, and communication.

In mild forms of Möbius syndrome, oral motor exercises and stimulation may help to improve the child’s ability to eat and swallow, as well as articulation. There are programmes for oral motor exercises in which tactile stimulation and specific movements are practised in order to improve the mobility, strength, and speed of the muscles in and around the mouth. Training equipment is sometimes used. Games and toys that encourage use of the mouth provide excellent oral training for young children. Another way of training articulation skills is by playing with sounds, syllables, and rhymes. Specialised computer software is available for sound and speech training. Many county councils offer oral motor assessment and training carried out by oral motor teams including professionals such as dentists and speech therapists.

Early contact should be established with the dental care services. Owing to the increased risk of caries, gingivitis, and periodontitis, it is important to have thorough oral hygiene and to maintain good nutritional habits. The child may need to see a dental hygienist frequently. A double toothbrush, which brushes both sides of the teeth at the same time, can be useful. It may be especially difficult to maintain good oral hygiene if the child has an autism spectrum disorder. Malocclusions should be treated by an orthodontist, while cleft palate is treated at specialised regional centres.

In recent years, plastic surgery of the facial musculature – known as smile surgery – has been performed on individuals with Möbius syndrome. A segment of the gracialis muscle is removed from the thigh and transplanted to the cheek, near the corner of the mouth, restoring partial function of the facial nerve. A microsurgical technique is used to achieve vascular and nerve supply by connecting blood vessels and nerves to a part of the fifth cranial nerve, which is linked to the chewing muscle. A different surgical technique involves the transferral of the whole temporalis muscle, a muscle on the side of the skull used for chewing, by releasing it from its tendon and moving it downwards to the midface, and then suturing the muscle to the lip region. In this way the muscle preserves normal blood flow and nerve conduction via the fifth cranial nerve. In Möbius syndrome the nerves of the chewing muscle are usually intact, meaning that the child will find it relatively easy to learn to smile by using this muscle. Articulation and the ability to close the mouth are often also improved.

Treatment of clubfoot usually begins in infancy, with the foot repeatedly being put in a cast, followed by splinting. Surgery may sometimes be required to straighten the foot and make it possible to walk on. Webbed toes require no treatment, as the condition does not affect the ability to walk. Hand deformities may require surgical treatment to improve hand function. Movement therapy and other physiotherapeutic treatment may also be needed.

If needed, contact with a paediatric habilitation centre should be arranged at an early stage. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Support and treatment take place within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. It also includes information about support offered by the local authority as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings can also receive support.

Habilitation is planned and implemented in collaboration between the child, the parents and personnel from the preschool or school, and is adapted to the child’s abilities and limitations.

Children with moderate or severe intellectual disability and/or autism have impaired language development and communication difficulties. They need extra stimulation of language and communication skills from an early age. Augmentative and Alternative Communication (AAC) should be offered to children who are unable to develop speech.

In order to assess whether or not a child has autism, special evaluations and tests will be carried out. This diagnosis should be established as early as possible, as early support measures such as structured learning methods and behaviour therapy are of major importance for the child’s development and improve autistic symptoms.

If intellectual disability is suspected, a specialist evaluation is carried out when the child reaches school age, at the latest. This assessment helps to determine what educational form suits the child best.

Some adults with Möbius syndrome manage entirely without extra support and treatment, and may feel that the syndrome has not had any impact on their life situation. Individuals who have autism or an intellectual deficiency may make substantial progress as a result of treatment and training, although as adults they often still require a great deal of support from the people around them and from society. This may take the form of support and care in accommodation offering specialist services and daily activities.

Practical advice

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National and regional resources in Sweden

All regional hospitals in Sweden have knowledge about this disorder and sufficient resources to perform the diagnostics.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email: mun-h-center@vgregion.se, www.mun-h-center.se.

Resource personnel

Senior Physician Aina Danielsson, Orthopaedic Clinic, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Maria Johansson, MD, PhD, The Paediatric Neuropsychiatry Clinic, Kungsgatan 12, SE-411 19 Gothenburg, Sweden. Tel: +46 31 342 59 73.

Speech pathologist Lotta Sjögreen, PhD, Mun-H-Center Ågrenska, Box 2046, SE-436 02 Hovås, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email: lotta.sjogreen@vgregion.se.

Senior physician, Associate Professor Elisabet Wentz, The Gillberg Neuropsychiatry Centre, University of Gothenburg, Kungsgatan 12, SE-411 19 Gothenburg, Sweden. Tel: +46 31 342 58 92, email: elisabet.wentz@vgregion.se.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. Every year a number of adults with rare diseases also visit Ågrenska. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations

Möbius Syndrome Association in Sweden. Chairman: Dan Wikström, tel: +46 8 89 54 06, email: 08.895406@telia.com. Liaison officer: Rangela Fredsjö, tel: +46 31 47 15 70, email: rangela.fredsjo@gmail.com.
The association has a website: http://mobius.sallsyntadiagnoser.nu/start.asp?sida

Rare Diseases Sweden, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 764 49 99, email: info@sallsyntadiagnoser.se, www.sallsyntadiagnoser.se.
Rare Diseases Sweden is a federation of rare disease organizations, serving the interests of people with rare disorders.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities, Gävlegatan 18 C, Box 6436, SE-113 82 Stockholm, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, email: fub@fub.se, www.fub.se.

The Autism and Asperger Association, Bellmansgatan 30, SE-118 47 Stockholm, Sweden. Tel: +46 8 702 05 80, fax: +46 8 644 02 88, email: info@autism.se, www.autism.se.

Courses, exchanges of experience for personnel

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children who are participating. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Research and development (R&D)

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Information material

An information leaflet on Möbius syndrome summarising the information in this database text is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2011-10-16.) Address: SE-120 88 Stockholm, Sweden. Tel: +46 75 247 38 80, fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se. Postage will be charged for bulk orders.

The Ågrenska National Competence Centre for Rare Diseases has published a newsletter on Möbius syndrome, nr 243 (2004). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. Can be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 3191 19 79, email: agrenska@agrenska.se. The newsletter is also available at www.agrenska.se.

Ågrenska has also published a material that deals with the adult experience of having the disorder: www.agrenska.se/Nksd/Vuxen-att-leva-med/Att-leva-med-Kraniofaciala-missbildningar/.

Frambu has a brochure on Möbius syndrome and a booklet, no. 21, on children and young people with the syndrome (in Norwegian). Order from: Frambu, Senter for sjeldne funksjonshemninger, Sandbakkveien 18, N-1404 Siggerud, Norway. Tel: +47 64 85 60 00, fax: +47 64 85 60 99, email: info@frambu.no, www.frambu.no.

Möbius syndrom - tal, språk och kommunikation. Sjögreen L, Mun-H-Center, Gothenburg 1997 (in Swedish). Order from: Mun-H-Center (see address under “National and regional resources”). Also available at: http://mun-h-center.se/sv/Mun-H-Center/MHC-Basen/Diagnoser/Mobius-syn.

Extensive information on autism, in languages including English, is available on Autism forum: www.autismforum.se. Autism forum is part of the Stockholm County Council habilitation services.

Literature

Briegel W. Neuropsychiatric findings in Möbius sequence - a review. Clin Genet 2006; 70: 91-97.

Gillberg C, Steffenburg S. Autistic behaviour in Möbius syndrome. Acta Paediatr Scand 1989; 78: 314-316.

Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. 4 ed Oxford University Press, New York 2001; 822-828.

Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Dev Med Child Neurol 2001; 43: 338-345.

Miller MT, Strömland K. The Möbius sequence: A relook. J AAPOS 1999; 3: 199-208.

Möbius PJ. Über angeborene doppelzeitige Abducens-Facialis-Lähmung. Münchener Medizinische Wochenschrift 1888; 35: 91-94, 108-111.

Möbius PJ. About congenital bilateral abducens and facialis palsy (1888). Strabismus 2008; 16: 39-44.

Pastuszak AL, Schuler L, Speck-Martins CE, Coelho KE, Cordello SM, Vargas et al. Use of misoprostol during pregnancy and Möbius’ syndrome in infants. N Engl J Med 1998; 338: 1881-1885.

Sjögreen L, Andersson-Norinder J, Jacobsson C. Development of speech, feeding, eating and facial expression in Möbius sequence. Int J Pediatr Otorhinolaryngol 2001; 60: 197-204.

Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M et al. Möbius sequence: a Swedish multidiscipline study. Eur J Paediatr Neurol 2002; 6: 35-45.

Zuker RM, Goldberg CS, Manktelow RT. Facial animation in children with Mobius syndrome after segmental gracilis muscle transplant. Plast Reconstr Surg 2000; 106: 1-8; discussion 9.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim
Search: moebius syndrome, mbs

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor emerita Kerstin Strömland, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2012-06-05
Version: 3.2
Publication date of the Swedish version: 2011-12-30

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 400, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.