| H00868 | |
| H number | H00868 |
| Name | Stapes ankylosis with broad thumb and toes |
| Description | This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | NOG [HSA:9241] [KO:K04658] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536943 OMIM: 184460 |
| Reference | PMID:9220188 AUTHORS Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M TITLE The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. JOURNAL Clin Dysmorphol 6:195-203 (1997) DOI:10.1097/00019605-199707000-00001 PMID:12089654 AUTHORS Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM TITLE Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. JOURNAL Am J Hum Genet 71:618-24 (2002) DOI:10.1086/342067 |