| H00570 | |
| H番号 | H00570 |
| 名称 | 歌舞伎症候群 |
| 概要 | Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | MLL2 [HSA:8085] [KO:K09187] KDM6A [HSA:7403] [KO:K11447] |
| 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: Q89.8 MeSH: C537705 OMIM: 147920 300867 |
| 文献 | PMID:15691356 著者 Adam MP, Hudgins L タイトル Kabuki syndrome: a review. 雑誌 Clin Genet 67:209-19 (2005) DOI:10.1111/j.1399-0004.2004.00348.x PMID:12002156 著者 Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ タイトル Kabuki syndrome: a review study of three hundred patients. 雑誌 Clin Dysmorphol 11:95-102 (2002) DOI:10.1097/00019605-200204000-00004 PMID:21882399 著者 Adam MP, Hudgins L, Hannibal M タイトル Kabuki Syndrome 雑誌 GeneReviews (1993) PMID:25972376 著者 Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH タイトル Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 雑誌 Hum Mol Genet 24:4443-53 (2015) DOI:10.1093/hmg/ddv180 |