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Disease Profile

Melkersson-Rosenthal 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

Childhood

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ICD-10

G51.2

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.

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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)

MRS; Melkersson syndrome; MROS;

Categories

Immune System Diseases; Skin Diseases

Summary

Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves). The majority of people with MRS only have one or two of these features, rather than all three.[1][2] The age when symptoms begin and frequency of episodes varies from person to person (even within the same family), but usually symptoms begin during childhood or early adolescence.[1][2] Recurrent episodes may lead to worsening and persistent swelling, which may become permanent.[2] MRS is more common in females than in males.[1]

Inheritance of MRS is autosomal dominant, but a consistent genetic cause has not been found. It is possible that more than one gene is responsible for MRS, and/or that environmental "triggers" may contribute to causing the syndrome in some genetically predisposed individuals.[1] In some cases, MRS may be associated with Crohn's disease or sarcoidosis.[2] MRS is diagnosed based on the symptoms present and medical history, and a biopsy of the lips may be needed to confirm the diagnosis in some cases.[3]

Treatment for MRS aims to relieve symptoms, but the effectiveness of current treatment options has not been well-established.[4] Treatment options may include medications to reduce swelling (such as nonsteroidal anti-inflammatory drugs and corticosteroids), antibiotics, immunosuppressants, surgery (to relieve pressure on the facial nerves and reduce swelling), and facial rehabilitation (which may involve physiotherapy and speech-language therapy).[2][5]

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
Cheilitis
Inflammation of the lips
0100825
Inflammatory abnormality of the skin
Skin inflammation
0011123
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance

[ more ]

0000298
Oligosacchariduria
0010471
Periorbital edema
0100539
30%-79% of people have these symptoms
Facial palsy
Bell's palsy
0010628
Furrowed tongue
Grooved tongue
0000221
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
5%-29% of people have these symptoms
Abnormal autonomic nervous system physiology
0012332
Fever
0001945
Lymphadenopathy
Swollen lymph nodes
0002716
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Autosomal dominant inheritance
0000006
Facial edema
Facial puffiness
Facial swelling

[ more ]

0000282

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

      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

        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 Melkersson-Rosenthal syndrome. Click on the link to view a sample search on this topic.

          References

          1. Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. Eur J Med Genet. September 11, 2018; [Epub ahead of print]:https://www.sciencedirect.com/science/article/pii/S176972121830394X.
          2. Melkersson-Rosenthal Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). August 9, 2018; https://www.ninds.nih.gov/Disorders/All-Disorders/Melkersson-Rosenthal-Syndrome-Information-Page.
          3. Melkersson Rosenthal Syndrome. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/melkersson-rosenthal-syndrome/.
          4. Wehl G, Rauchenzauner M. A systematic review of the literature of the three related disease entities cheilitis granulomatosa, orofacial granulomatosis and Melkersson Rosenthal syndrome. Curr Pediatr Rev. May 14, 2018; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/29766816.
          5. Melkersson-Rosenthal Syndrome. Facial Palsy UK. April 4, 2017; https://www.facialpalsy.org.uk/causesanddiagnoses/melkersson-rosenthal-syndrome/.