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Disease Profile

Moebius syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Mobius syndrome; Congenital facial diplegia; Congenital facial diplegia syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;

Summary

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.[1][2] 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.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Facial palsy
Bell's palsy
0010628
Feeding difficulties in infancy
0008872
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance

[ more ]

0000298
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Ophthalmoplegia
Eye muscle paralysis
0000602
Ptosis
Drooping upper eyelid
0000508
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
30%-79% of people have these symptoms
Aplasia of the pectoralis major muscle
0009751
Brachydactyly
Short fingers or toes
0001156
Corneal opacity
0007957
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Motor delay
0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
5%-29% of people have these symptoms
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect

[ more ]

0004408
Abnormality of the ulna
0002997
Absent hand
0004050
Aplasia/Hypoplasia involving the metacarpal bones
Absent/small long bones of hand
Absent/underdeveloped long bones of hand

[ more ]

0005914
Aplasia/Hypoplasia of the radius
0006501
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb

[ more ]

0009601
Aplasia/Hypoplasia of the tongue
0010295
Arthrogryposis multiplex congenita
0002804
Autism
0000717
Blepharitis
Inflammation of eyelids
0000498
Breast aplasia
Absent breast
0100783
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Finger syndactyly
0006101
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypogonadotropic hypogonadism
0000044
Microdontia
Decreased width of tooth
0000691
Micrognathia
Small jaw
Little lower jaw
Small lower jaw

[ more ]

0000347
Multiple cafe-au-lait spots
0007565
Reduced number of teeth
Decreased tooth count
0009804
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
1%-4% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Bifid uvula
0000193
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Percent of people who have these symptoms is not available through HPO
Abnormal nasopharynx morphology
0001739
Abnormal posterior cranial fossa morphology
0000932
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the nail
0001597
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Autosomal dominant inheritance
0000006
Camptodactyly
Permanent flexion of the finger or toe
0012385
Clinodactyly
Permanent curving of the finger
0030084
Clumsiness
0002312
Congenital fibrosis of extraocular muscles
0001491

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • Genetics Home Reference (GHR) contains information on Moebius syndrome. This website is maintained by the National Library of Medicine.
        • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
        • A Positive Exposure program called FRAME has an educational film about Moebius syndrome that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Moebius syndrome. Click on the link to view a sample search on this topic.

            References

            1. Moebius syndrome. Genetics Home Reference. July 2010; https://ghr.nlm.nih.gov/condition/moebius-syndrome.
            2. NINDS Moebius Syndrome Information Page. National Institute of Neurological Disorders and Stroke, National Institutes of Health. June 23, 2011; https://www.ninds.nih.gov/disorders/mobius/moebius.htm.
            3. Moebius syndrome. Genetics Home Reference. July 2010; https://www.ghr.nlm.nih.gov/condition/moebius-syndrome. Accessed 7/15/2013.
            4. Marla J. F. O'Neill. MOEBIUS SYNDROME; MBS. OMIM. July 26, 2012; https://omim.org/entry/157900. Accessed 7/15/2013.
            5. Mulliken JB and Ganske I. Moebius syndrome. National Organization of Rare Disorders. March 17 2016; https://rarediseases.org/rare-diseases/moebius-syndrome/.
            6. Treatment options. Moebius Syndrome Foundation. https://www.ninds.nih.gov/disorders/mobius/moebius.htm#What_is_the_prognosis; Accessed 4/1/2016.
            7. Palmer, CA. Moebius syndrome. Medscape Reference. October 2014; https://emedicine.medscape.com/article/1180822-overview#showall.
            8. Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa, K, Shibasaki, J, Ohyama M, and Aida N. Clinical characteristics and outcomes of Mobius syndrome in a Children’s Hospital. Pediatric Neurology. December 2014; 51(6):781-789. https://www.sciencedirect.com.ezproxy.nihlibrary.nih.gov/science/article/pii/S0887899414005177.

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