Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
Abstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs an...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-03-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-024-00517-2 |
| _version_ | 1827301142896312320 |
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| author | Yalda Zhoulideh Jamil Joolideh |
| author_facet | Yalda Zhoulideh Jamil Joolideh |
| author_sort | Yalda Zhoulideh |
| collection | DOAJ |
| description | Abstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease. |
| first_indexed | 2024-04-24T16:18:03Z |
| format | Article |
| id | doaj.art-d20f1a85dc874d0e81a7c10571777b83 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-04-24T16:18:03Z |
| publishDate | 2024-03-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-d20f1a85dc874d0e81a7c10571777b832024-03-31T11:22:34ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412024-03-0125111010.1186/s43042-024-00517-2Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom managementYalda Zhoulideh0Jamil Joolideh1Graduated With Master’s Degree in Genetics at Islamic Azad University of TabrizHead nurse of the ICU Department of Salahuddin Ayubi HospitalAbstract Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and Hirschsprung. MWS treatment may vary based on the specific symptoms that appear in each individual. This review will examine the gene involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.https://doi.org/10.1186/s43042-024-00517-2HirschsprungMowat-Wilson syndromeMWSRare diseaseZEB2 |
| spellingShingle | Yalda Zhoulideh Jamil Joolideh Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management Egyptian Journal of Medical Human Genetics Hirschsprung Mowat-Wilson syndrome MWS Rare disease ZEB2 |
| title | Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management |
| title_full | Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management |
| title_fullStr | Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management |
| title_full_unstemmed | Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management |
| title_short | Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management |
| title_sort | mowat wilson syndrome unraveling the complexities of diagnosis treatment and symptom management |
| topic | Hirschsprung Mowat-Wilson syndrome MWS Rare disease ZEB2 |
| url | https://doi.org/10.1186/s43042-024-00517-2 |
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