| H01840 | |
| H番号 | H01840 |
| 名称 | メビウス症候群 |
| 概要 | Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial neuropathies can also be found, most notably cranial nerves V, IX, X, and XII. The disorder presents with varying phenotype and severity. Frequently, it has additional features including orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities. The specific etiology of MBS is unknown, and theories of the underlying pathophysiology and genetics are numerous. The two main theories underlying the pathogenesis of MBS are an embryological developmental defect in the rhombomere segments including the facial nerve nuclei and an interruption of the vascular supply resulting in ischemia. It has also been reported that mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.0 MeSH: D020331 OMIM: 157900 |
| 文献 | PMID:24612975 著者 MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC タイトル Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 雑誌 Ophthalmology 121:1461-8 (2014) DOI:10.1016/j.ophtha.2014.01.006 PMID:25663568 著者 Kadakia S, Helman SN, Schwedhelm T, Saman M, Azizzadeh B タイトル Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome. 雑誌 Oral Maxillofac Surg 19:109-16 (2015) DOI:10.1007/s10006-015-0485-6 |