| H00817 | |
| H number | H00817 |
| Name | Branchiooculofacial syndrome |
| Description | Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | TFAP2A [HSA:7020] [KO:K09176] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q18.8 MeSH: D019280 OMIM: 113620 |
| Reference | PMID:21634087 AUTHORS Lin AE, Milunsky JM TITLE Branchiooculofacial Syndrome JOURNAL GeneReviews (1993) PMID:10906521 AUTHORS Raveh E, Papsin BC, Forte V TITLE Branchio-oculo-facial syndrome. JOURNAL Int J Pediatr Otorhinolaryngol 53:149-56 (2000) DOI:10.1016/S0165-5876(00)00310-4 PMID:3321995 AUTHORS Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG TITLE New autosomal dominant branchio-oculo-facial syndrome. JOURNAL Am J Med Genet 27:943-51 (1987) DOI:10.1002/ajmg.1320270422 |