| H00570 | |
| H number | H00570 |
| Name | Kabuki syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | MLL2 [HSA:8085] [KO:K09187] KDM6A [HSA:7403] [KO:K11447] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q89.8 MeSH: C537705 OMIM: 147920 300867 |
| Reference | PMID:15691356 AUTHORS Adam MP, Hudgins L TITLE Kabuki syndrome: a review. JOURNAL Clin Genet 67:209-19 (2005) DOI:10.1111/j.1399-0004.2004.00348.x PMID:12002156 AUTHORS Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ TITLE Kabuki syndrome: a review study of three hundred patients. JOURNAL Clin Dysmorphol 11:95-102 (2002) DOI:10.1097/00019605-200204000-00004 PMID:21882399 AUTHORS Adam MP, Hudgins L, Hannibal M TITLE Kabuki Syndrome JOURNAL GeneReviews (1993) PMID:25972376 AUTHORS Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH TITLE Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. JOURNAL Hum Mol Genet 24:4443-53 (2015) DOI:10.1093/hmg/ddv180 |