| H01893 | |
| H番号 | H01893 |
| 名称 | 側方髄膜瘤症候群 |
| 概要 | Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | NOTCH3 [HSA:4854] [KO:K20995] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA07.Y ICD-10: Q87.5 MeSH: C537878 OMIM: 130720 |
| 文献 | PMID:830893 著者 Lehman RA, Stears JC, Wesenberg RL, Nusbaum ED タイトル Familial osteosclerosis with abnormalities of the nervous system and meninges. 雑誌 J Pediatr 90:49-54 (1977) DOI:10.1016/S0022-3476(77)80763-4 PMID:24311540 著者 Castori M, Morlino S, Ritelli M, Brancati F, De Bernardo C, Colombi M, Grammatico P タイトル Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. 雑誌 Am J Med Genet A 164A:528-34 (2014) DOI:10.1002/ajmg.a.36301 PMID:28512196 著者 Masek J, Andersson ER タイトル The developmental biology of genetic Notch disorders. 雑誌 Development 144:1743-1763 (2017) DOI:10.1242/dev.148007 PMID:25394726 著者 Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K タイトル Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 雑誌 Am J Med Genet A 167A:271-81 (2015) DOI:10.1002/ajmg.a.36863 |