| H00979 | |
| H番号 | H00979 |
| 名称 | 尾退行症候群; 前方仙骨部髄膜瘤 |
| 概要 | Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees of agenesis of the vertebral column (usually sacral or lumbosacral spine), as well as anorectal and genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal mesoderm and are usually sporadic. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | VANGL1 [HSA:81839] [KO:K04510] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Spina bifida, a neural tube defect, is described in H00262. |
| リンク | ICD-11: LD2F.1 ICD-10: Q76.0 MeSH: D004480 OMIM: 600145 |
| 文献 | PMID:33158301 著者 Kylat RI, Bader M タイトル Caudal Regression Syndrome. 雑誌 Children (Basel) 7:E211 (2020) DOI:10.3390/children7110211 PMID:18470923 著者 Rougemont AL, Bouron-Dal Soglio D, Desilets V, Jovanovic M, Perreault G, Laurier Oligny L, Fournet JC タイトル Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. 雑誌 Am J Med Genet A 146A:1470-6 (2008) DOI:10.1002/ajmg.a.32081 |